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Pattern of Malformation Differential Diagnosis by Anomalies


The following lists were developed from the syndromes delineated in Chapter 1 . Listed for each anomaly are the syndromes in which this defect is a frequent feature, as well as those syndromes in which it is an occasional feature. Characteristics, such as mental or growth deficiency, are not considered because they are frequent features in a large number of disorders.

The anomalies are set forth under the following headings:

  • Central Nervous System Dysfunction Other Than Mental Deficiency

  • Deafness

  • Brain: Major Anomalies

  • Cranium

  • Scalp and Facial Hair Patterning

  • Facies

  • Ocular Region

  • Eye

  • Nose

  • Maxilla and Mandible

  • Oral Region and Mouth

  • Teeth

  • External Ears

  • Neck, Thorax, and Vertebrae

  • Limbs

  • Limbs: Nails, Creases, Dermatoglyphics

  • Limbs: Joints

  • Skin and Hair

  • Cardiac

  • Abdominal

  • Renal

  • Genital

  • Endocrine and Metabolism

  • Immune Deficiency

  • Hematology-Oncology

  • Unusual Growth Patterns

1

Central Nervous System Dysfunction Other Than Mental Deficiency

Hypotonicity

Frequent in

  • Achondroplasia, 484

  • Acrocallosal S., 308

  • Angelman S., 274

  • Axenfeld-Rieger S., 834

  • Bannayan-Riley-Ruvalcaba S., 742

  • Blepharophimosis-Ptosis-Epicanthus Inversus S. (variable), 326

  • Börjeson-Forssman-Lehmann S., 820

  • Cardio-Facio-Cutaneous S., 156

  • Cerebro-Oculo-Facio-Skeletal (COFS) S., 236

  • Coffin-Lowry S., 402

  • Coffin-Siris S., 816

  • Cohen S., 284

  • Curry-Jones S., 586

  • Deletion 3p S., 28

  • Deletion 4p S., 32

  • Deletion 4q S., 34

  • Deletion 9p S., 40

  • Deletion 11q S., 50

  • Deletion 18p S., 56

  • Deletion 18q S., 58

  • Deletion 22q13 S., 94

  • Down S., 1

  • Ehlers-Danlos S., 674

  • FG S., 408

  • Gómez–López-Hernández S. (central), 250

  • Hypophosphatasia, 536

  • Johanson-Blizzard S., 126

  • Kabuki S., 138 , 142

  • Killian/Teschler-Nicola S. (infancy), 288

  • Langer-Giedion S., 416

  • Lenz Microphthalmia S., 400

  • Macrocephaly-Capillary Malformation S., 734f

  • Marden-Walker S., 230

  • Marfan S., 658

  • Marshall-Smith S., 214

  • Matthew-Wood S., 294

  • Microdeletion 15q24 S., 90–91

  • Microdeletion 17q21 S., 92

  • Microdeletion 22q11.2 S., 386

  • Miller-Dieker S., 258

  • Mowat-Wilson S., 840

  • Mulibrey Nanism S., 120

  • 9q34.3 Subtelomeric Deletion S., 86

  • 1p36 Deletion S., 76

  • Opitz G/BBB S., 170

  • Osteogenesis Imperfecta S., Type II, 686f

  • Pitt-Hopkins S., 272

  • Prader-Willi S. (infancy), 278

  • Shprintzen-Goldberg S., 670

  • Simpson-Golabi-Behmel S., 224

  • Sotos S., 202

  • Spondyloepiphyseal Dysplasia Congenita, 502

  • Stickler S., 410

  • Thanatophoric Dysplasia, 478

  • 3C S., 310

  • Toriello-Carey S., 244

  • Vici S., 864

  • X-Linked α-Thalassemia/Mental Retardation S. (infancy), 404

  • Xq Distal Duplication or Disomy, 96

  • XXXY and XXXXY S., 65

  • Zellweger S., 296

Occasional in

  • Atelosteogenesis, Type III, 468

  • Blepharophimosis-Ptosis-Epicanthus Inversus S., 326

  • Cranioectodermal Dysplasia, 774

  • Deletion 5p S., 36

  • Fetal Aminopterin/Methotrexate S., 798

  • Fragile X S., 198

  • Hyperthermia-Induced Spectrum of Defects, 808–809

  • Laurin-Sandrow S., 376

  • Multiple Endocrine Neoplasia, Type 2B, 746

  • Myotonic Dystrophy S., 302

  • Tricho-Rhino-Phalangeal S., Type I, 420

  • Trisomy 13 S., 14

  • Weaver S., 210

  • Williams S., 144

Hypertonicity

Frequent in

  • Brachmann–de Lange S., 100

  • Deletion 18p S., 56

  • Gómez–López-Hernández S. (peripheral), 250

  • Hunter S., 646

  • Menkes S., 270

  • Schinzel-Giedion S., 306

  • Smith-Lemli-Opitz S., 134–135

  • Trisomy 18 S., 8

  • Weaver S., 210

  • X-Linked α-Thalassemia/Mental Retardation S., 404

Occasional in

  • Cardio-Facio-Cutaneous S., 156

  • Fragile X S., 198

  • Incontinentia Pigmenti S., 706

  • Oculodentodigital S., 392

  • Sturge-Weber Sequence, 698

  • Trisomy 13 S., 14

  • Wiedemann-Rautenstrauch S., 182

  • Xeroderma Pigmentosa S., 190

  • X-Linked Hydrocephalus Spectrum, 252

Ataxia

Frequent in

  • Angelman S., 274

  • Cockayne S., 186

  • Gómez–López-Hernández S., 250

  • Xq Distal Duplication or Disomy, 96

Occasional in

Seizures

Frequent in

  • Acrocallosal S., 308

  • Angelman S., 274

  • Autosomal Recessive Chondrodysplasia Punctata, 534

  • Coffin-Siris S., 816

  • Curry-Jones S., 586

  • Deletion 2q37 S., 84

  • Deletion 4p S., 32

  • Deletion 9p S., 40

  • Deletion 11q S., 50

  • Duplication 3q S., 30

  • Encephalocraniocutaneous Lipomatosis, 740

  • Fetal Varicella S., 806

  • FG S., 408

  • Gómez–López-Hernández S., 250

  • Hypomelanosis of Ito, 710

  • Killian/Teschler-Nicola S., 288

  • Linear Sebaceous Nevus Sequence, 705f

  • Mandibulofacial Dysostosis with Microcephaly, 364

  • Menkes S., 270

  • Microdeletion 2q31.1 S., 80

  • Miller-Dieker S., 258

  • Neurocutaneous Melanosis Sequence, 701f

  • 9q34.3 Subtelomeric Deletion S., 86

  • 1p36 Deletion S., 76

  • Schinzel-Giedion S., 306

  • Sturge-Weber Sequence, 698

  • Trisomy 13 S., 14–15

  • Tuberous Sclerosis S., 712

  • Vici S., 864

  • X-Linked α-Thalassemia/Mental Retardation S., 404

  • Xq Distal Duplication or Disomy, 96

  • Zellweger S., 296

Occasional in

  • Adams-Oliver S., 444

  • Atelosteogenesis, Type III, 468

  • Baller-Gerold S., 598

  • Bannayan-Riley-Ruvalcaba S., 742

  • Börjeson-Forssman-Lehmann S., 820

  • Brachmann–de Lange S., 100

  • Cardio-Facio-Cutaneous S., 156

  • Cat-Eye S., 60

  • Catel-Manzke S., 414

  • Cerebro-Oculo-Facio-Skeletal (COFS) S., 236

  • Cockayne S., 186

  • Cohen S., 284

  • Crouzon S., 582

  • Deletion 4q S., 34

  • Deletion 22q13 S., 94

  • Donnai-Barrow S., 354

  • Down S., 2

  • Fetal Warfarin S., 796

  • Fragile X S., 198

  • Freeman-Sheldon S., 300

  • Geleophysic Dysplasia, 516

  • Hereditary Hemorrhagic Telangiectasia, 744

  • Hyperthermia-Induced Spectrum of Defects, 808

  • Hypophosphatasia, 536

  • Incontinentia Pigmenti S., 706

  • Klippel-Trenaunay S., 724

  • Langer-Giedion S., 416

  • Macrocephaly-Capillary Malformation S., 734f

  • Marden-Walker S., 230

  • Microphthalmia–Linear Skin Defects S., 758

  • Monozygotic Twinning and Structural Defects—General, 916

  • Neurofibromatosis S., 716

  • Oculodentodigital S., 392

  • Oral-Facial-Digital S., 380

  • Peters’-Plus S., 838

  • Pfeiffer S., 574

  • Prader-Willi S., 278

  • Proteus S., 736

  • Robinow S., 166

  • Rubinstein-Taybi S., 106

  • Smith-Lemli-Opitz S., 134

  • Sotos S., 202

  • 3C S., 310

  • Walker-Warburg S., 256

  • Xeroderma Pigmentosa S., 190

2

Deafness

Frequent in

  • Branchio-Oculo-Facial S., 352

  • Cerebro-Oculo-Facio-Skeletal (COFS) S., 236

  • Cervico-Oculo-Acoustic S., 368

  • CHARGE S., 356

  • Cockayne S., 186

  • Coffin-Siris S., 816

  • Craniometaphyseal Dysplasia, 542

  • Deletion 11q S., 50

  • Deletion 18q S., 58

  • Distal Arthrogryposis S., Type 6, 231

  • FGFR3-Associated Coronal Synostosis S., 584

  • Frontometaphyseal Dysplasia, 554

  • Hunter S., 646

  • Johanson-Blizzard S., 126

  • Kabuki S., 138

  • Killian/Teschler-Nicola S., 288

  • Levy-Hollister S., 448

  • Mandibulofacial Dysostosis with Microcephaly, 364

  • Marshall S., 366

  • Melnick-Fraser S., 350

  • Microdeletion 15q24 S., 90

  • Mohr S., 384

  • Morquio S., 652

  • Mucopolysaccharidosis I H, I H/S, I S., 642

  • Multiple Lentigines S., 752

  • Multiple Synostosis S., 600

  • Nager S., 372

  • Oculo-Auriculo-Vertebral Spectrum, 904

  • Okihiro S., 450

  • 1p36 Deletion S., 76

  • Oto-Palato-Digital S., Type I, 544

  • Oto-Palato-Digital S., Type II, 546

  • Pfeiffer S., 574

  • Senter-KID S., 782–783

  • Smith-Magenis S., 266

  • Spondyloepiphyseal Dysplasia Congenita, 502

  • Stickler S., 410

  • Townes-Brocks S., 374

  • Treacher Collins S., 362

  • Trisomy 13 S., 14

  • Vici S., 864

  • Waardenburg S., 358

  • Zellweger S., 296

Occasional in

  • Acrodysostosis, 626

  • Axenfeld-Rieger S., 834

  • Baller-Gerold S., 598

  • Bardet-Biedl S., 826

  • Brachmann–de Lange S., 100

  • Campomelic Dysplasia, 482

  • Carpenter S., 592

  • Cat-Eye S., 60

  • Cerebro-Costo-Mandibular S., 844

  • CHILD S., 436

  • Cleft Lip Sequence, 336

  • Cleidocranial Dysostosis, 566

  • Clouston S., 772

  • Coffin-Lowry S., 402

  • Craniofrontonasal Dysplasia, 588

  • Crouzon S., 582

  • Diastrophic Dysplasia, 520

  • Deletion 2q37 S., 84

  • Deletion 22q13 S., 94

  • Ectrodactyly–Ectodermal Dysplasia–Clefting S., 422

  • Escobar S., 434

  • Fanconi Pancytopenia S., 452

  • Fetal Valproate S., 794

  • FG S., 408

  • Fibrodysplasia Ossificans Progressiva S., 688

  • 45 X S., 70

  • Frontonasal Dysplasia Sequence, 342

  • Goltz S., 754

  • Hay-Wells S. of Ectodermal Dysplasia, 764

  • Killian/Teschler-Nicola S., 288

  • Klippel-Feil Sequence, 882

  • Langer-Giedion S., 416

  • Larsen S., 604

  • Lenz Microphthalmia S., 400

  • Marshall-Smith S., 214

  • McCune-Albright S., 720

  • Meier-Gorlin S., 616

  • Microdeletion 17q21 S., 92

  • Miller S., 371f

  • Mucopolysaccharidosis I H, I H/S, I S, 642

  • MURCS Association, 926

  • Nail-Patella S., 612

  • 9q34.3 Subtelomeric Deletion S., 86

  • Noonan S., 148

  • Oculodentodigital S., 392

  • Oral-Facial-Digital S., 380

  • Osteogenesis Imperfecta S., Type I, 682

  • Osteopetrosis: Autosomal Recessive—Lethal, 558

  • Progeria S., 174

  • Radial Aplasia–Thrombocytopenia S., 456

  • Rapp-Hodgkin Ectodermal Dysplasia, 766f

  • Robin Sequence, 334

  • Saethre-Chotzen S., 570

  • Schinzel-Giedion S., 306

  • SHORT S., 116

  • Spondylocarpotarsal Synostosis S., 602

  • Smith-Lemli-Opitz S., 134–135

  • Toriello-Carey S., 244

  • Trisomy 8 S., 18

  • Wiedemann-Rautenstrauch S., 182

  • Xeroderma Pigmentosa S., 190

  • Xq Distal Duplication or Disomy, 96

3

Brain: Major Anomalies

Anencephaly/Meningomyelocele

Occasional in

  • Acrocallosal S. (anencephaly), 308

  • Amnion Rupture Sequence, 898

  • Caudal Dysplasia Sequence (meningomyelocele), 896

  • Cerebro-Costo-Mandibular S. (meningomyelocele), 844

  • CHILD S. (meningomyelocele), 436

  • Curry-Jones S. (occipital meningomyelocele), 586

  • Exstrophy of Cloaca Sequence (myelocystocele), 888

  • Fanconi Pancytopenia S., 452

  • Fetal Alcohol S. (meningomyelocele), 786

  • Fetal Aminopterin/Methotrexate S., 798

  • Fetal Valproate S. (meningomyelocele), 794

  • Fraser S. (meningomyelocele), 348

  • Hydrolethalus S. (anencephaly), 254

  • Hyperthermia-Induced Spectrum of Defects, 808

  • Jarcho-Levin S., 848

  • Laterality Sequences, 866

  • Limb–Body Wall Complex, 902

  • Meckel-Gruber S. (anencephaly), 246

  • Microdeletion 15q24 S., 90

  • Microdeletion 22q11.2 S., 386

  • Miller-Dieker S. (lipomeningocele), 258

  • Monozygotic Twinning and Structural Defects—General, 915

  • Okihiro S. (meningocele), 450

  • Triploidy S. and Diploid/Triploid Mixoploidy S. (meningomyelocele), 24

  • Trisomy 9 Mosaic S., 22

  • Trisomy 13 S. (meningomyelocele), 14

  • Trisomy 18 S., 8

  • Waardenburg S., 358

Encephalocele

Frequent in

Occasional in

  • Adams-Oliver S., 444

  • Amnion Rupture Sequence, 898

  • Boomerang Dysplasia (frontal), 472

  • Cervico-Oculo-Acoustic S. (occipital meningocele), 368

  • Fraser S., 348

  • Frontonasal Dysplasia Sequence (anterior basal), 342–343

  • Hyperthermia-Induced Spectrum of Defects, 808

  • Limb–Body Wall Complex, 902

  • MURCS Association, 926

  • Oculo-Auriculo-Vertebral Spectrum (occipital), 904

  • Pallister-Hall S., 248

  • Roberts S. (frontal), 424

Holoprosencephaly

Frequent in

Occasional in

  • Deletion 2q37 S., 84

  • Deletion 11q S., 50

  • Deletion 13q S., 52

  • Deletion 18p S., 56

  • Ectrodactyly–Ectodermal Dysplasia–Clefting S., 422

  • Fetal Hydantoin S., 792

  • Microdeletion 22q11.2 S., 386

  • Monozygotic Twinning and Structural Defects—General, 915

  • Pallister-Hall S., 248

  • Smith-Lemli-Opitz S., 134

  • Triploidy S. and Diploid/Triploid Mixoploidy S., 24

Lissencephaly

Frequent in

  • Acrocallosal S. (polymicrogyria), 308

  • Adams-Oliver S., 444

  • Kabuki S. (polymicrogyria), 138

  • Killian/Teschler-Nicola S. (polymicrogyria), 288

  • Microcephalic Primordial Dwarfing S. (polymicrogryia), 128

  • Miller-Dieker S., 258

  • Neu-Laxova S., 242

  • Sturge-Weber Sequence, 698

  • Walker-Warburg S., 256

Dandy-Walker Malformation

Frequent in

Occasional in

  • Branchio-Oculo-Facial S. (agenesis of vermis), 352

  • Chondroectodermal Dysplasia, 518

  • Coffin-Siris S., 816

  • Fetal Warfarin S., 796

  • Fryns S., 292

  • Jeune Thoracic Dystrophy, 480

  • Laterality Sequences, 866

  • Marden-Walker S., 230

  • Matthew Wood S., 294

  • Meckel-Gruber S., 246

  • Neurocutaneous Melanosis Sequence, 701f

  • Neu-Laxova S., 242

  • Opitz G/BBB S. (hypoplastic vermis) ., 170

  • Oral-Facial-Digital S., Type VI, 381

  • Oto-Palato-Digital S., Type II, 380

  • Pallister-Hall S., 248

  • Radial Aplasia–Thrombocytopenia S. (hypoplastic vermis), 456

  • Retinoic Acid Embryopathy, 800

  • Short Rib–Polydactyly S., Type II (Majewski Type) (small vermis), 474

  • Simpson-Golabi-Behmel S. (hypoplastic vermis), 224

  • Sotos S. (hypoplastic vermis), 202

  • Toriello-Carey S., 244

  • Trisomy 9 Mosaic S., 22

  • XXXXX S., 68

  • XYY S., 62

  • Yunis-Varón S. (hypoplastic vermis), 630

Agenesis of Corpus Callosum

Frequent in

  • Acrocallosal S., 308

  • Cerebro-Oculo-Facio-Skeletal (COFS) S., 236

  • Curry-Jones S., 586

  • FG S., 408

  • Fryns S., 292

  • Gómez–López-Hernández S., 250

  • Marden-Walker S., 230

  • Meckel-Gruber S., 246

  • Microdeletion 2q31.1 S., 80

  • Microdeletion 15q24 S., 90

  • Microphthalmia–Linear Skin Defects S., 758

  • Miller-Dieker S., 258

  • Neu-Laxova S., 242

  • Pitt-Hopkins S., 272

  • Septo-Optic Dysplasia Sequence, 880

  • Toriello-Carey S., 244

  • Walker-Warburg S., 256

  • Xq Distal Duplication or Disomy S., 96

  • Zellweger S., 296

Occasional in

  • Apert S., 578–579

  • Baller-Gerold S., 598

  • Carpenter S., 592

  • Cerebro-Costo-Mandibular S., 844

  • Coffin-Siris S., 816

  • Congenital Microgastria–Limb Reduction Complex, 910

  • Crouzon S., 582

  • Deletion 11q S., 50

  • Fanconi Pancytopenia S., 452–453

  • Fetal Alcohol S., 786

  • Fetal Warfarin S., 796

  • FG S., 408

  • 45 X S., 71

  • Frontonasal Dysplasia Sequence, 343

  • Gorlin S., 748

  • Greig Cephalopolysyndactyly S., 594

  • Hydrolethalus S., 254

  • Laurin-Sandrow S., 376

  • Lenz-Majewski Hyperostosis S., 562

  • Lenz Microphthalmia S., 400

  • Marshall-Smith S., 214

  • Microcephalic Primordial Dwarfing S., 129

  • Microdeletion 22q11.2 S., 386

  • Mowat-Wilson S., 840

  • Oculo-Auriculo-Vertebral Spectrum, 904

  • Opitz G/BBB S., 170

  • Oral-Facial-Digital S., 380

  • Peters’-Plus S., 838

  • Radial Aplasia–Thrombocytopenia S., 456

  • Rubinstein-Taybi S., 106

  • Simpson-Golabi-Behmel S., 224

  • Smith-Lemli-Opitz S., 134

  • Trisomy 8 S., 18

  • Trisomy 13 S., 14

  • Trisomy 18 S., 8

  • Vici S., 864

  • X-Linked Hydrocephalus Spectrum, 252

  • XYY S., 62

  • XXXY and XXXXY S. (hypoplastic), 65

  • Yunis-Varón S., 630

Hydrocephalus

Frequent in

  • Curry-Jones S., 586

  • Hydrolethalus S., 254

  • Loeys-Dietz S., 670–671

  • Macrocephaly-Capillary Malformation S., 734f

  • Osteopetrosis: Autosomal Recessive—Lethal, 558

  • Shprintzen-Goldberg S., 670

  • 3 C S., 310

  • Triploidy S. and Diploid/Triploid Mixoploidy S., 24

  • Walker-Warburg S., 256

  • X-Linked Hydrocephalus Spectrum, 252

  • Xq Distal Duplication or Disomy S., 96

Occasional in

  • Achondroplasia, 484

  • Acrodysostosis, 626

  • Acromesomelic Dysplasia, 498

  • Antley-Bixler S., 596

  • Apert S., 578

  • Atelosteogenesis, Type III, 468

  • Campomelic Dysplasia, 482

  • Cardio-Facio-Cutaneous S., 156

  • Cervico-Oculo-Acoustic S., 368–369

  • Congenital Microgastria–Limb Reduction Complex, 910

  • Craniometaphyseal Dysplasia, 542

  • Crouzon S., 582

  • Deletion 2q37 S., 84

  • Deletion 11q S., 50

  • Duplication 9p S., 42

  • Encephalocraniocutaneous Lipomatosis, 740

  • Fanconi Pancytopenia S., 452–453

  • Fetal Alcohol S., 786

  • Fetal Warfarin S., 796

  • Fraser S., 348

  • Gorlin S., 748

  • Greig Cephalopolysyndactyly S., 594

  • Hajdu-Cheney S., 538

  • Hunter S., 646

  • Incontinentia Pigmenti S., 706

  • Kabuki S. (aqueductal stenosis), 138

  • Laurin-Sandrow S., 376

  • Linear Sebaceous Nevus Sequence, 702–703

  • Meckel-Gruber S., 246

  • Metatropic Dysplasia, 512

  • Microdeletion 2q31.1 S., 80

  • Microdeletion 22q11.2 S., 386

  • Mohr S., 384

  • Mucopolysaccharidosis I H, I H/S, I S., 642

  • Mucopolysaccharidosis VII, 656

  • Nager S., 372

  • Neu-Laxova S., 242

  • Neurocutaneous Melanosis Sequence, 701f

  • Neurofibromatosis S., Type I, 716

  • Oculo-Auriculo-Vertebral Spectrum, 904

  • 1p36 Deletion S., 76–77

  • Oral-Facial-Digital S., 380

  • Osteogenesis Imperfecta S., Type II, 682

  • Pfeiffer S., 574

  • Retinoic Acid Embryopathy, 800

  • Roberts S., 424

  • Rothmund-Thomson S., 194

  • Simpson-Golabi-Behmel S., 224

  • Thanatophoric Dysplasia, 478

  • Toriello-Carey S., 244

  • Triploidy S. and Diploid/Triploid Mixoploidy S., 24

  • Trisomy 9 Mosaic S., 22

  • Trisomy 13 S., 14

  • Trisomy 18 S., 8

  • VACTERL Association, 922–923

  • Yunis-Varón S., 630

Microcephaly

Frequent in

  • Angelman S., 274

  • Aniridia–Wilms Tumor Association, 48

  • Autosomal Recessive Chondrodysplasia Punctata, 534

  • Bloom S., 122

  • Börjeson-Forssman-Lehmann S., 820

  • Brachmann–de Lange S., 100

  • Cerebro-Oculo-Facio-Skeletal (COFS) S., 236

  • Cockayne S., 186

  • Coffin-Siris S., 816

  • Deletion 3p S., 28

  • Deletion 4p S., 32

  • Deletion 5p S., 36

  • Deletion 11q S., 50

  • Deletion 13q S., 52

  • Deletion 18p S., 56

  • Deletion 18q S., 58

  • Duplication 10q S., 46

  • Dyggve-Melchior-Clausen S., 508

  • Fetal Alcohol S., 786–787

  • Fetal Aminopterin/Methotrexate S., 798

  • Gómez–López-Hernández S., 250

  • Johanson-Blizzard S., 126

  • Langer-Giedion S., 416

  • Lenz Microphthalmia S., 400

  • Marden-Walker S., 230

  • Meckel-Gruber S., 246

  • Meier-Gorlin S., 616

  • Microcephalic Primordial Dwarfing S., 128

  • Microdeletion 2q31.1 S., 80

  • Microdeletion 22q11.2 S., 386

  • Miller-Dieker S., 258

  • Mowat-Wilson S., 840–841

  • Nablus Mask-Like Facial S. (postnatal onset), 262

  • Neu-Laxova S., 242

  • 9q34.3 Subtelomeric Deletion S., 86

  • 1p36 Deletion S., 76

  • Oto-Palato-Digital S., Type II, 546

  • Roberts S., 424

  • Rubinstein-Taybi S., 106

  • Septo-Optic Dysplasia Sequence, 880

  • Smith-Lemli-Opitz S., 134

  • Thanatophoric Dysplasia, 478

  • Toriello-Carey S., 244

  • Trisomy 13 S., 14

  • Trisomy 18 S., 8

  • Williams S., 144

  • X-Linked α-Thalassemia/Mental Retardation S., 404

  • Yunis-Varón S., 630

Occasional in

  • Adams-Oliver S., 444

  • Beckwith-Wiedemann S., 218

  • Branchio-Oculo-Facial S., 352

  • Caudal Dysplasia Sequence, 896

  • Cerebro-Costo-Mandibular S., 844

  • Coffin-Lowry S., 402

  • Cohen S., 284

  • Deletion 2q37 S., 84

  • Deletion 22q13 S., 94

  • Duplication 15q S., 54

  • Fanconi Pancytopenia S., 452

  • Fetal Hydantoin S., 792

  • Fetal Varicella S., 806

  • Fetal Warfarin S., 796

  • Floating-Harbor S., 110

  • Freeman-Sheldon S., 300

  • Goltz S., 754

  • Hallermann-Streiff S., 132

  • Hyperthermia-Induced Spectrum of Defects, 808–809

  • Incontinentia Pigmenti S., 706

  • Killian/Teschler-Nicola S., 288

  • Klippel-Trenaunay S., 724

  • Microdeletion 15q24 S., 90

  • Microphthalmia–Linear Skin Defects S., 758

  • Monozygotic Twinning and Structural Defects—General, 915

  • Myotonic Dystrophy S., 302

  • Oculodentodigital S., 392

  • Peters’-Plus S., 838

  • Prader-Willi S., 278

  • Restrictive Dermopathy, 244

  • Retinoic Acid Embryopathy, 800

  • Rothmund-Thomson S., 194

  • Smith-Magenis S., 266

  • Townes-Brocks S., 374

  • Vici S. (postnatal onset), 864

  • Walker-Warburg S., 256

  • Xeroderma Pigmentosa S., 190

  • Xq Distal Duplication or Disomy, 96

  • XXXXX S., 68

  • XXXY and XXXXY S., 65

Macrocephaly

Frequent in

  • Achondrogenesis, Types IA and IB, 460

  • Achondroplasia, 484

  • Acrocallosal S., 308

  • Bannayan-Riley-Ruvalcaba S., 742

  • Cantú S., 618

  • Cardio-Facio-Cutaneous S., 156

  • Costello S., 152–153

  • Craniometaphyseal Dysplasia, 542

  • Donnai-Barrow S., 354

  • Duplication 9p S., 42

  • FG S., 408

  • Greig Cephalopolysyndactyly S., 594

  • Hallermann-Streiff S., 132

  • Hunter S., 646

  • Hypochondroplasia, 492

  • Hypomelanosis of Ito, 710

  • Klippel-Trenaunay S., 724

  • Macrocephaly-Capillary Malformation S., 734f

  • Marshall-Smith S., 214

  • Microdeletion 17q21 S., 92

  • Mucopolysaccharidosis I H, I H/S, I S, 642

  • Mucopolysaccharidosis VII, 656

  • Osteopetrosis: Autosomal Recessive—Lethal, 558

  • Proteus S., 736

  • Robinow S., 166

  • Simpson-Golabi-Behmel S., 224

  • Sotos S., 202

  • Thanatophoric Dysplasia, 478

  • Triploidy S. and Diploid/Triploid Mixoploidy S. (relative), 24

  • Weaver S., 210

Occasional in

  • Bardet-Biedl S., 826

  • Beckwith-Wiedemann S., 218

  • Campomelic Dysplasia, 482

  • Curry-Jones S., 586

  • Deletion 2q37 S., 84

  • Deletion 11q S., 50

  • Deletion 22q13 S., 94

  • FGFR3-Associated Coronal Synostosis S., 584

  • Fragile X S., 198

  • Gorlin S., 748

  • Klippel-Trenaunay S., 724

  • Linear Sebaceous Nevus Sequence, 703

  • Macrocephaly-Capillary Malformation S, 734f

  • Metatropic Dysplasia, 512

  • Methimazole/Carbimazole Embryopathy, 802

  • Morquio S., 652

  • Neurofibromatosis S., Type I, 716

  • Osteogenesis Imperfecta S., Type I, 682

  • Peters’-Plus S., 838

  • Sturge-Weber Sequence, 698

  • 3 C S., 310

4

Cranium

Craniosynostosis

Frequent in

  • Antley-Bixler S., 596

  • Apert S., 578–579

  • Baller-Gerold S., 598

  • Carpenter S., 592

  • Cranioectodermal Dysplasia (sagittal), 774

  • Craniofrontonasal Dysplasia, 588

  • Crouzon S., 582

  • Curry-Jones S. (coronal), 586

  • Deletion 9p S. (metopic), 40

  • FGFR3-Associated Coronal Synostosis S., 584

  • Gómez–López-Hernández S. (particularly lambdoid), 250

  • Loeys-Dietz S., 671

  • Pfeiffer S., 574

  • Saethre-Chotzen S., 570

  • Shprintzen-Goldberg S., 670–671

  • Xq Distal Duplication or Disomy, 96

Occasional in

  • Alagille S., 822

  • Amnion Rupture Sequence, 898

  • Boomerang Dysplasia, 472

  • Chondrodysplasia Punctata, X-Linked Dominant Type, 530

  • Deletion 11q S. (metopic), 50

  • Deletion 13q S. (metopic), 52

  • Duplication 3q S., 30

  • Femoral Hypoplasia–Unusual Facies S., 438

  • Fetal Aminopterin/Methotrexate S., 798

  • Fetal Hydantoin S., 792

  • FG S., 408

  • Floating-Harbor S. (metopic), 110

  • GAPO S., 778

  • Greig Cephalopolysyndactyly S., 594

  • Hypophosphatasia, 536

  • Macrocephaly-Capillary Malformation S., 734f

  • Meckel-Gruber S., 246

  • Microdeletion 2q31.1 S., 80

  • Nablus Mask-Like Facial S., 262

  • Proteus S., 736

  • Roberts S., 424

  • Rothmund-Thomson S., 194

  • Smith-Magenis S., 266

  • Thanatophoric Dysplasia, 478

  • Tibial Aplasia–Ectrodactyly S., 443f

  • Tricho-Dento-Osseous S., 770

  • Tricho-Rhino-Phalangeal S., Type I, 420

  • Williams S., 144

Occiput, Flat or Prominent

Frequent in

  • Acrocallosal S. (prominent), 308

  • Angelman S. (flat), 274

  • Antley-Bixler S. (flat), 596

  • Apert S. (flat), 578

  • Beckwith-Wiedemann S. (prominent), 218

  • Carpenter S. (flat), 592

  • Cleidocranial Dysostosis (flat), 178

  • Craniofrontonasal Dysplasia (flat), 588

  • Deletion 3p S. (flat), 28

  • Deletion 9p S. (flat), 40

  • Down S. (flat), 1

  • GAPO S., 778

  • Jarcho-Levin S. (prominent), 848

  • 1p36 Deletion S., 76

  • Oto-Palato-Digital S., Type I (prominent), 544

  • Pallister-Hall S. (prominent), 248

  • Pyknodysostosis (prominent), 564

  • Smith-Magenis S. (flat), 266

  • Trisomy 18 S. (prominent), 8

  • Weaver S. (flat), 210

  • Xq Distal Duplication or Disomy (flat), 96

  • Zellweger S. (flat), 296

Occasional in

Delayed Closure of Fontanels

Frequent in

  • Aase S., 458

  • Achondrogenesis-Hypochondrogenesis Type II, 462

  • Acrocallosal S., 308

  • Antley-Bixler S., 596

  • Apert S., 578

  • Boomerang Dysplasia, 472

  • Campomelic Dysplasia, 482

  • Cleidocranial Dysostosis, 564

  • Donnai-Barrow S., 354

  • Down S., 1

  • Duplication 9p S., 42

  • Fetal Aminopterin/Methotrexate S., 798

  • Fetal Hydantoin S., 792

  • FG S., 408

  • Fibrochondrogenesis, 464

  • GAPO S., 778

  • Gómez–López-Hernández S., 250

  • Hallermann-Streiff S., 132

  • Hypophosphatasia, 536

  • Lenz-Majewski Hyperostosis S., 562

  • Macrocephaly-Capillary Malformation S., 734f

  • Mandibuloacral Dysplasia, 178

  • Marden-Walker S., 230

  • Melnick-Needles S., 550

  • Methimazole/Carbimazole Embryopathy, 802

  • 1p36 Deletion S., 76

  • Osteogenesis Imperfecta S., Type I, 682

  • Osteogenesis Imperfecta S., Type II, 682

  • Oto-Palato-Digital S., Type II, 546

  • Progeria S., 174

  • Pyknodysostosis, 564

  • Restrictive Dermopathy, 244

  • Robinow S., 166

  • Russell-Silver S., 112

  • Saethre-Chotzen S., 570

  • Schinzel-Giedion S., 306

  • Shprintzen-Goldberg S., 670

  • Thanatophoric Dysplasia, 478

  • 3 C S., 310

  • Toriello-Carey S., 244

  • Triploidy S. and Diploid/Triploid Mixoploidy S., 24

  • Trisomy 13 S., 14

  • Trisomy 18 S., 8

  • Achondrogenesis-Hypochondrogenesis Type II, 462

  • Wiedemann-Rautenstrauch S., 182

  • Yunis-Varón S., 630

  • Zellweger S., 296

Occasional in

  • Beckwith-Wiedemann S., 218

  • Chondrodysplasia Punctata, X-Linked Dominant, Type, 530

  • Coffin-Lowry S., 402

  • Greig Cephalopolysyndactyly S., 594

  • Oto-Palato-Digital S., Type I, 544

  • Rubinstein-Taybi S., 106

  • VACTERL Association, 922

Frontal Bossing or Prominent Central Forehead

Frequent in

Occasional in

5

Scalp and Facial Hair Patterning

Anterior Upsweep, Scalp

Frequent in

  • Fetal Aminopterin/Methotrexate S., 798

  • FG S., 408

  • Johanson-Blizzard S., 126

  • Rubinstein-Taybi S., 106

  • Trisomy 13 S., 14

Occasional in

Posterior Midline Scalp Defects

Frequent in

6

Facies

“Flat” Facies

Frequent in

Occasional in

“Round” Facies

Frequent in

  • Aarskog S., 160

  • Albright Hereditary Osteodystrophy, 628–629

  • Amyoplasia Congenita Disruptive Sequence, 226

  • Deletion 2q37 S., 84

  • Deletion 5p S., 36

  • Deletion 18p S., 56

  • Desbuquois Dysplasia, 632

  • Geleophysic Dysplasia, 516

  • Peters’-Plus S., 838

  • Prader-Willi S., 278

Occasional in

“Broad” Facies

Frequent in

Occasional in

  • Bardet-Biedl S., 826

  • Cleidocranial Dysostosis, 178

  • Prader-Willi S., 278

  • Sotos S., 202

  • Spondylocarpotarsal Synostosis S., 602

  • XXXY and XXXXY S., 65

“Triangular” Facies

Frequent in

  • Distal Arthrogryposis S., Type 2B, 230

  • 45 X S., 70

  • Microdeletion 15q24 S., 90

  • Mulibrey Nanism S., 120

  • Osteogenesis Imperfecta S., Type I, 682

  • Russell-Silver S., 112

  • SHORT S., 116

  • 3-M S., 118

  • Wiedemann-Rautenstrauch S., 182

Occasional in

  • Floating-Harbor S., 110

  • Hallermann-Streiff S., 132

  • Oculo-Auriculo-Vertebral Spectrum., 904

  • Progeria S., 174

  • Treacher Collins S., 362

“Mask-Like” Facies

Frequent in

  • Distal Arthrogryposis S., Type 5, 230–231

  • Escobar S., 434

  • Freeman-Sheldon S., 300

  • Marden-Walker S., 230

  • Moebius Sequence, 322

  • Myotonic Dystrophy S., 302

  • Oculo-Auriculo-Vertebral Spectrum, 904

  • Oromandibular-Limb Hypogenesis Spectrum, 908

  • Pena-Shokeir Phenotype, 234

  • Schwartz-Jampel S., 304

Occasional in

  • Amyoplasia Congenita Disruptive Sequence, 226

  • Branchio-Oculo-Facial S., 352

  • Cat-Eye S., 60

  • CHARGE S., 356

  • Melnick-Fraser S., 350

“Coarse” Facies

Frequent in

Occasional in

  • Hypomelanosis of Ito, 710

  • 9q34.3 Subtelomeric Deletion S., 86

  • X-Linked Hydrocephalus Spectrum, 252

7

Ocular Region

Hypotelorism

Frequent in

  • Holoprosencephaly Sequence, 870

  • Trisomy 13 S., 14

Occasional in

Hypertelorism

Frequent in

  • Aarskog S., 160

  • Acrocallosal S., 308

  • Acrodysostosis, 626

  • Apert S., 578–579

  • Atelosteogenesis, Type I, 466

  • Boomerang Dysplasia, 472

  • Cardio-Facio-Cutaneous S., 156

  • Cat-Eye S., 60

  • Cleft Lip Sequence, 336

  • Coffin-Lowry S., 402

  • Craniofrontonasal Dysplasia, 588

  • Curry-Jones S., 586

  • Deletion 4p S., 32

  • Deletion 4q S., 34

  • Deletion 9p S., 40

  • Deletion 11q S., 50

  • Deletion 13q S., 52

  • Donnai-Barrow S., 354

  • Duplication 9p S., 42

  • Escobar S., 434

  • Fetal Aminopterin/Methotrexate S., 798

  • Fetal Hydantoin S., 792

  • FG S., 408

  • FGFR3-Associated Coronal Synostosis S., 584

  • Frontonasal Dysplasia Sequence, 342

  • Gómez–López-Hernández S., 250

  • Greig Cephalopolysyndactyly S., 594

  • Hajdu-Cheney S., 538

  • Killian/Teschler-Nicola S., 288

  • Larsen S., 604

  • Lenz-Majewski Hyperostosis S., 562

  • Lethal Multiple Pterygium S., 240

  • Loeys-Dietz S., 671

  • Marshall S., 366

  • Microdeletion 15q24 S., 90

  • Microdeletion 22q11.2 S., 386

  • Multiple Lentigines S., 752

  • Mycophenolate Mofetil Embryopathy, 804

  • Neu-Laxova S., 242

  • 9q34.3 Subtelomeric Deletion S., 86

  • Noonan S., 148

  • Opitz G/BBB S., 170

  • Oto-Palato-Digital S., Type I, 544

  • Oto-Palato-Digital S., Type II, 546

  • Pena-Shokeir Phenotype, 234

  • Peters’-Plus S., 838

  • Pfeiffer S., 574

  • Restrictive Dermopathy, 244

  • Retinoic Acid Embryopathy, 800

  • Roberts S., 424

  • Robinow S., 166

  • Saethre-Chotzen S., 570

  • Schinzel-Giedion S., 306

  • Shprintzen-Goldberg S., 670

  • Simpson-Golabi-Behmel S., 224

  • Sotos S., 202

  • 3 C S., 310

  • Triploidy S. and Diploid/Triploid Mixoploidy S., 24

  • Trisomy 8 S., 18

  • Trisomy 13 S., 14

  • Weaver S., 210

  • Xq Distal Duplication or Disomy, 96

  • XXX and XXXX S., 64

Occasional in

  • Campomelic Dysplasia, 482

  • CHARGE S., 356

  • Chondrodysplasia Punctata, X-Linked Dominant Type, 530

  • Cleidocranial Dysostosis, 566

  • Cranioectodermal Dysplasia, 774

  • Craniometaphyseal Dysplasia, 542

  • Crouzon S., 582

  • Deletion 5p S., 36

  • Deletion 18p S., 56

  • Deletion 18q S., 58

  • Ectrodactyly–Ectodermal Dysplasia–Clefting S., 422

  • Fraser S., 348

  • Frontometaphyseal Dysplasia, 554

  • Geleophysic Dysplasia, 516

  • Goltz S., 754

  • Gorlin S., 748

  • Holt-Oram S., 446

  • Meckel-Gruber S., 246

  • Metatropic Dysplasia, 512

  • Mucopolysaccharidosis I H, I H/S, I S, 642

  • Noonan S., 148

  • Oculodentodigital S., 392

  • Smith-Lemli-Opitz S., 134

  • Spondylocarpotarsal Synostosis S., 602

  • Vici S., 864

  • XXXXX S., 68

  • XXXY and XXXXY S., 65

Short Palpebral Fissure

Frequent in

Occasional in

  • Restrictive Dermopathy, 244

Lateral Displacement of Inner Canthi (Giving Rise to Short Palpebral Fissures)

Frequent in

  • Blepharophimosis-Ptosis-Epicanthus Inversus S., 326

  • Branchio-Oculo-Facial S., 352

  • Carpenter S., 592

  • Fetal Valproate S., 794

  • Finlay-Marks S., 768

  • Freeman-Sheldon S., 300

  • Frontonasal Dysplasia Sequence, 384

  • Microdeletion 22q11.2 S., 386

  • Mohr S., 384

  • Nablus Mask-Like Facial S., 262

  • Oral-Facial-Digital S., 380

  • Oromandibular-Limb Hypogenesis Spectrum, 908

  • SHORT S., 116

  • Waardenburg S., 358

  • X-Linked α-Thalassemia/Mental Retardation S., 404

Occasional in

  • Craniofrontonasal Dysplasia, 588

  • Gorlin S., 748

  • Levy-Hollister S., 448

  • Pena-Shokeir Phenotype, 234

Inner Epicanthal Folds

Frequent in

Occasional in

Slanted Palpebral Fissures

Frequent in

  • Aarskog S. (down), 160

  • Acrocallosal S. (down), 308

  • Apert S. (down), 578

  • Autosomal Recessive Chondrodysplasia Punctata (up), 534

  • Baller-Gerold S. (down), 598

  • Bannayan-Riley-Ruvalcaba S. (down), 742

  • Branchio-Oculo-Facial S. (up), 352

  • Cardio-Facio-Cutaneous S. (down), 156

  • Cat-Eye S. (down), 60

  • Chondrodysplasia Punctata, X-Linked Dominant Type (down), 530

  • Coffin-Lowry S. (down), 402

  • Cohen S. (down), 284

  • Costello S. (down), 152

  • Deletion 2q37 S. (up), 84

  • Deletion 5p S. (up or down), 36

  • Deletion 9p S. (up), 40

  • Donnai-Barrow S. (down), 354

  • Down S. (up), 1–3

  • Distal Arthrogryposis S., Type 2B, 233f

  • Duplication 3q S. (up), 30

  • Duplication 9p S. (down), 42

  • Duplication 10q S. (down), 46

  • Duplication 15q S. (down), 54

  • Escobar S. (down), 434

  • Femoral Hypoplasia–Unusual Facies S. (up), 438

  • FG S. (down), 408

  • FGFR3-Associated Coronal Synostosis S. (down), 584

  • Geleophysic Dysplasia (up), 516

  • Gómez–López-Hernández S. (down), 250

  • Hajdu-Cheney S. (down), 538

  • Jarcho-Levin S. (up), 848

  • Killian/Teschler-Nicola S. (up), 288

  • Lethal Multiple Pterygium S. (down), 240

  • Mandibulofacial Dysostosis with Microcephaly (up or down), 364

  • Marfan S. (down), 658

  • Methimazole/Carbimazole Embryopathy (up), 802

  • Microcephalic Primordial Dwarfing S. (down), 128

  • Microdeletion 2q31.1 S. (down), 80

  • Microdeletion 15q24 S. (down), 90

  • Microdeletion 17q21 (up), 92

  • Microdeletion 22q11.2 S., 386

  • Miller S. (down), 370

  • Miller-Dieker S. (up), 258

  • Nager S. (down), 372

  • Noonan S. (down), 148

  • Opitz G/BBB S. (down), 170

  • Oto-Palato-Digital S., Type I (down), 544

  • Oto-Palato-Digital S., Type II (down), 546

  • Pfeiffer S. (up), 574

  • Pitt-Hopkins S. (up), 272

  • Robinow S. (down), 166

  • Rubinstein-Taybi S. (down), 106–107

  • Saethre-Chotzen S. (down), 570

  • Shprintzen-Goldberg S. (down), 670

  • Simpson-Golabi-Behmel S. (down), 224

  • Sotos S. (down), 202

  • 3 C S. (down), 310

  • Treacher Collins S. (down), 362

  • Trisomy 9 Mosaic S. (up), 22

  • Weaver S. (down), 210

  • Wiedemann-Rautenstrauch S., 182

  • XXX and XXXX S. (up), 68

  • XXXXX S. (up), 68

  • XXXY and XXXXY S. (up), 64

  • Yunis-Varón S. (up), 630

Occasional in

  • Aase S. (down), 458

  • Cranioectodermal Dysplasia (down), 774

  • Deletion 3p S. (up), 28

  • Deletion 4q S. (up), 34

  • Deletion 18q S. (up), 58

  • Fetal Hydantoin S. (up), 792

  • Frontometaphyseal Dysplasia (down), 554

  • Greig Cephalopolysyndactyly S. (down), 594

  • Hallermann-Streiff S. (down), 132

  • Levy-Hollister S. (down), 448

  • 9q34.3 Subtelomeric Deletion S. (down and up), 86

  • Peters’-Plus S. (up), 838

  • Prader-Willi S. (up), 278

  • Smith-Magenis S. (up), 266

  • Trisomy 13 S. (up), 14

  • Trisomy 18 S. (up), 8

Shallow Orbital Ridges

Frequent in

Occasional in

Prominent Supraorbital Ridges

Frequent in

  • Alagille S., 822

  • Börjeson-Forssman-Lehmann S., 820

  • Coffin-Lowry S., 402

  • Craniometaphyseal Dysplasia, 542

  • Frontometaphyseal Dysplasia, 554

  • Gorlin S., 748

  • Hypohidrotic Ectodermal Dysplasia, 760

  • Langer-Giedion S., 416

  • Oto-Palato-Digital S., Type I, 544

Prominent Eyes

Frequent in

Occasional in

Periorbital Fullness of Subcutaneous Tissue

Frequent in

Eyebrows Extending to Midline (Synophrys)

Frequent in

  • Brachmann–de Lange S., 100

  • Deletion 3p S., 28

  • Deletion 9p S., 40

  • Duplication 3q S., 30

  • Hajdu-Cheney S., 538

  • 9q34.3 Subtelomeric Deletion S., 86

  • Sanfilippo S., 650

  • Smith-Magenis S., 266

  • Waardenburg S., 358

Occasional in

Unusual Flare of Medial Eyebrow

Frequent in

Ptosis of Eyelid or Blepharophimosis

Frequent in

  • Aarskog S., 160

  • Aniridia–Wilms Tumor Association, 48

  • Blepharophimosis-Ptosis-Epicanthus Inversus S., 326

  • Börjeson-Forssman-Lehmann S., 820

  • Cardio-Facio-Cutaneous S., 156

  • Cerebro-Oculo-Facio-Skeletal (COFS) S., 236

  • Deletion 3p S., 28

  • Deletion 11q S., 50

  • Deletion 13q S., 52

  • Deletion 18p S., 56

  • Distal Arthrogryposis S., Type 5, 230–231

  • Duplication 10q S., 46

  • Duplication 15q S., 54

  • Escobar S., 434

  • FGFR3-Associated Coronal Synostosis S., 584

  • Freeman-Sheldon S., 300

  • Kabuki S., 138

  • Killian/Teschler-Nicola S., 288

  • Lenz Microphthalmia S., 400

  • Marden-Walker S., 230

  • Microdeletion 2q31.1 S., 80

  • Microdeletion 17q21 S., 92

  • Moebius Sequence, 322

  • Myotonic Dystrophy S., 302

  • Nablus Mask-Like Facial S., 262

  • Noonan S., 148

  • Saethre-Chotzen S., 570

  • Schwartz-Jampel S., 304

  • Smith-Lemli-Opitz S., 134–135

  • Vici S., 864

Occasional in

  • Branchio-Oculo-Facial S., 352

  • CHARGE S., 356

  • Coffin-Siris S., 816

  • Deletion 22q13 S., 94

  • Distal Arthrogryposis S., Type 2, 230

  • Distichiasis-Lymphedema S., 856

  • Ectrodactyly–Ectodermal Dysplasia–Clefting S., 422

  • Fanconi Pancytopenia S., 452

  • Fetal Alcohol S., 786

  • Fetal Hydantoin S., 792

  • 45 X S., 70

  • GAPO S., 778

  • Gómez–López-Hernández S., 250

  • Hypochondroplasia, 492

  • Langer-Giedion S., 416

  • Mowat-Wilson S., 840

  • Mycophenolate Mofetil Embryopathy, 804

  • Nail-Patella S., 612

  • Neurofibromatosis S., 716

  • Okihiro S., 450

  • Proteus S., 736

  • Rubinstein-Taybi S., 106

  • Shprintzen-Goldberg S., 670

  • Treacher Collins S., 362

  • Trisomy 18 S., 8

Lacrimal Defects

Frequent in

  • Branchio-Oculo-Facial S., 352

  • Ectrodactyly–Ectodermal Dysplasia–Clefting S., 422

  • Hypohidrotic Ectodermal Dysplasia, 760

  • Johanson-Blizzard S. (fistulae), 126

  • Lenz-Majewski Hyperostosis S., 562

  • Levy-Hollister S., 448

  • Melnick-Fraser S., 350

  • Saethre-Chotzen S., 570

Occasional in

  • Coffin-Siris S., 816

  • Fetal Valproate S., 794

  • Fraser S., 348

  • Hay-Wells S. of Ectodermal Dysplasia, 764

  • Multiple Endocrine Neoplasia, Type 2B, 746

  • Rapp-Hodgkin Ectodermal Dysplasia, 766f

  • Schinzel-Giedion S., 306

  • Smith-Lemli-Opitz S., 134

  • Treacher Collins S., 362

Strabismus

Frequent in

Occasional in

  • Adams-Oliver S., 444

  • Alagille S., 822

  • Baller-Gerold S., 598

  • Bannayan-Riley-Ruvalcaba S., 742

  • Bardet-Biedl S., 826

  • Brachmann–de Lange S., 100

  • Craniofrontonasal Dysplasia, 588

  • Deletion 18p S., 56

  • Distichiasis-Lymphedema S., 856

  • Down S., 1

  • Fanconi Pancytopenia S., 452

  • Femoral Hypoplasia–Unusual Facies S., 438

  • Fetal Alcohol S., 786

  • Fetal Valproate S., 794

  • Fragile X S., 198

  • Gorlin S., 748

  • Hallermann-Streiff S., 132

  • Hypochondroplasia, 492

  • Hypomelanosis of Ito, 710

  • Johanson-Blizzard S., 126

  • Langer-Giedion S., 416

  • Linear Sebaceous Nevus Sequence, 703

  • Melnick-Needles S., 550

  • Microcephalic Primordial Dwarfing S., 128

  • Mowat-Wilson S., 840

  • Mulibrey Nanism S., 120

  • Oculo-Auriculo-Vertebral Spectrum, 904

  • 1p36 Deletion S., 76–77

  • Opitz G/BBB S., 170

  • Oromandibular-Limb Hypogenesis Spectrum, 908

  • Proteus S., 736

  • Radial Aplasia–Thrombocytopenia S., 456

  • Saethre-Chotzen S., 570

  • Sotos S., 202

  • Waardenburg S., 358

  • Weaver S., 210

Nystagmus

Frequent in

  • Aniridia–Wilms Tumor Association, 48

  • Bardet-Biedl S., 826

  • Cardio-Facio-Cutaneous S., 156

  • Cerebro-Oculo-Facio-Skeletal (COFS) S., 236

  • Deletion 18q S., 58

  • GAPO S., 778

  • Microdeletion 2q31.1 S., 80

  • Okihiro S., 450

  • Peters’-Plus S., 838

  • Septo-Optic Dysplasia Sequence, 880

Occasional in

  • Acrocallosal S., 308

  • Albright Hereditary Osteodystrophy, 628

  • Angelman S., 274

  • Blepharophimosis-Ptosis-Epicanthus Inversus S., 326

  • Börjeson-Forssman-Lehmann S., 820

  • Brachmann–de Lange S., 100

  • Chondrodysplasia Punctata, X-Linked Dominant Type, 530

  • Cockayne S., 186

  • Cranioectodermal Dysplasia, 774

  • Craniofrontonasal Dysplasia, 588

  • Crouzon S., 582

  • Down S., 1

  • Fanconi Pancytopenia S., 452

  • Fetal Valproate S., 794

  • Fetal Varicella S., 806

  • Fragile X S., 198

  • Gómez–López-Hernández S., 250

  • Hallermann-Streiff S., 132

  • Microdeletion 2q31.1 S., 80

  • Mowat-Wilson S., 840

  • Noonan S., 148

  • Okihiro S., 450

  • 1p36 Deletion S., 76–77

  • Pitt-Hopkins S., 272

  • Proteus S., 736

  • Smith-Lemli-Opitz S., 134

  • Sotos S., 202

  • Vici S., 864

  • Zellweger S., 296

8

Eye

Myopia

Frequent in

Occasional in

Blue Sclerae

Frequent in

Occasional in

Microphthalmos

Frequent in

  • Branchio-Oculo-Facial S., 352

  • Cerebro-Oculo-Facio-Skeletal (COFS) S., 236

  • CHARGE S., 356

  • Curry-Jones S., 586

  • Deletion 4p S., 32

  • Deletion 13q S., 52

  • Duplication 10q S., 46

  • Frontonasal Dysplasia Sequence, 342

  • Goltz S., 754

  • Hallermann-Streiff S., 132

  • Hydrolethalus S., 254

  • Lenz Microphthalmia S., 401f

  • Matthew-Wood S., 294

  • Meckel-Gruber S., 246

  • Microphthalmia–Linear Skin Defects S., 758

  • Oculodentodigital S., 392

  • Triploidy S. and Diploid/Triploid Mixoploidy S., 24

  • Trisomy 13 S., 14

  • Walker-Warburg S., 256

Occasional in

  • Adams-Oliver S., 444

  • Albright Hereditary Osteodystrophy, 628

  • Aniridia–Wilms Tumor Association, 48

  • Blepharophimosis-Ptosis-Epicanthus Inversus S., 326

  • Cat-Eye S., 60

  • Chondrodysplasia Punctata, X-Linked Dominant Type, 530

  • Cohen S., 284

  • Congenital Microgastria–Limb Reduction Complex, 910

  • Deletion 18q S., 58

  • Distichiasis-Lymphedema S., 856

  • Duplication 3q S., 30

  • Encephalocraniocutaneous Lipomatosis, 740

  • Fanconi Pancytopenia S., 452

  • Fetal Alcohol S., 786

  • Fetal Valproate S., 794

  • Fetal Varicella S., 806

  • Fetal Warfarin S., 796

  • Fraser S., 348

  • Fryns S., 292

  • Hyperthermia-Induced Spectrum of Defects, 808

  • Incontinentia Pigmenti S., 706

  • Linear Sebaceous Nevus Sequence, 703

  • Marden-Walker S., 230

  • Microdeletion 2q31.1 S., 80

  • Mycophenolate Mofetil Embryopathy, 804

  • Neu-Laxova S., 242

  • Oculo-Auriculo-Vertebral Spectrum, 904

  • Okihiro S., 450

  • Pallister-Hall S., 248

  • Proteus S., 736

  • Roberts S., 424

  • Smith-Lemli-Opitz S., 134

  • Treacher Collins S., 362

  • Trisomy 9 Mosaic S., 22

  • Trisomy 18 S., 8

Colobomata of Iris

Frequent in

  • Aniridia–Wilms Tumor Association (aniridia), 48

  • Axenfeld-Rieger S., 834

  • Branchio-Oculo-Facial S., 352

  • Cat-Eye S., 60

  • CHARGE S., 356

  • Curry-Jones S., 586

  • Deletion 4p S., 32

  • Deletion 13q S., 52

  • Donnai-Barrow S., 354

  • Goltz S., 754

  • Methimazole/Carbimazole Embryopathy, 802

  • Microdeletion 2q31.1 S., 80

  • Microdeletion 15q24 S., 90

  • Triploidy S. and Diploid/Triploid Mixoploidy S., 24

  • Trisomy 13 S., 14

  • Walker-Warburg S., 256

Occasional in

Iris, Unusual Patterning or Coloration

Frequent in

  • Angelman S. (pale blue), 274–275 , 841

  • Down S. (Brushfield spots), 1 , 702 , 958f

  • Ectrodactyly–Ectodermal Dysplasia–Clefting S. (blue), 422

  • Fragile X S. (pale blue), 198

  • Marfan S. (hypoplastic), 658

  • Microdeletion 17q21 S. (pale blue), 92

  • Nail-Patella S. (“cloverleaf”), 612

  • Neurofibromatosis S. (Lisch nodules), 716

  • Oculodentodigital S. (fine, porous), 392

  • Smith-Magenis S. (brushfield spots), 266

  • Sotos S. (hypoplastic), 202

  • Vici S. (hypopigmented), 864

  • Waardenburg S. (heterochromia), 358

  • Williams S. (stellate), 144 , 274

Occasional in

  • Hypomelanosis of Ito, 710

  • Klippel-Trenaunay S. (heterochromia), 724

  • Mowat-Wilson S., 840

  • Prader-Willi S. (blue), 274

  • Smith-Lemli-Opitz S., 134

  • Smith-Magenis S. (Brushfield spots), 266

  • Sturge-Weber Sequence (heterochromia), 698

  • Triploidy S. and Diploid/Triploid Mixoploidy S. (heterochromia), 24

  • XXXY S. (Brushfield spots), 65

  • Zellweger S. (Brushfield spots), 296

Glaucoma

Frequent in

Occasional in

Large Cornea

Frequent in

Occasional in

Keratoconus, Microcornea

Frequent in

Occasional in

Corneal Opacity

Frequent in

  • Cockayne S., 186

  • Gómez–López-Hernández S., 250

  • Microphthalmia–Linear Skin Defects S., 758

  • Morquio S., 652

  • Mucopolysaccharidosis I H, I H/S, I S, 642

  • Mucopolysaccharidosis VII, 656

  • Peters’-Plus S., 839f

  • Vici S. (congenital or acquired), 864

  • Walker-Warburg S., 256

Occasional in

  • Acromesomelic Dysplasia, 498

  • Alagille S., 822–823

  • Axenfeld-Rieger S., 834

  • Berardinelli-Seip Congenital Lipodystrophy S., 852

  • Carpenter S., 592

  • Chondrodysplasia Punctata, X-Linked Dominant Type, 530

  • Cockayne S., 186

  • Deletion 18q S., 58

  • Donnai-Barrow S., 354

  • Encephalocraniocutaneous Lipomatosis, 740

  • Fetal Valproate S., 794

  • Fetal Warfarin S., 796

  • Finlay-Marks S., 768

  • Fraser S., 348

  • Fryns S., 292

  • Leroy I-Cell S., 641f

  • Linear Sebaceous Nevus Sequence, 703

  • Microdeletion 2q31.1 S., 80

  • Neurofibromatosis S., 716

  • Okihiro S., 450

  • Osteogenesis Imperfecta S., Type I, 682

  • Pachyonychia Congenita S., 780

  • Roberts S., 424

  • Rothmund-Thomson S. (dystrophy), 194

  • Senter-KID S., 782

  • Trisomy 9 Mosaic S., 22

  • Trisomy 18 S., 8

  • Xeroderma Pigmentosa S., 190

  • Yunis-Varón S., 630

Cataract, Lenticular Opacities

Frequent in

  • Aniridia–Wilms Tumor Association, 48

  • Autosomal Recessive Chondrodysplasia Punctata, 530

  • Cerebro-Oculo-Facio-Skeletal (COFS) S., 236

  • Chondrodysplasia Punctata, X-Linked Dominant Type, 530

  • Cockayne S., 186

  • GAPO S., 778

  • Hallermann-Streiff S., 132

  • Marshall S., 366

  • Myotonic Dystrophy S., 302

  • Neu-Laxova S., 242

  • Rothmund-Thomson S., 194–195

  • Sotos S., 202

  • Stickler S., 410

  • Walker-Warburg S., 256

Occasional in

Lens Dislocation

Frequent in

Occasional in

Retinal Pigmentation

Frequent in

  • Acrocallosal S. (decreased), 308

  • Bardet-Biedl S., 826

  • Cockayne S., 186

  • Cohen S., 284

  • Fetal Varicella S., 806

  • Mucopolysaccharidosis I H, I H/S, I S, 642

  • Mulibrey Nanism S., 120

  • Vici S. (decreased), 864

  • Walker-Warburg S. (dysplasia), 256

Occasional in

9

Nose

Low Nasal Bridge

Frequent in

  • Achondrogenesis, Types IA and IB, 460

  • Achondroplasia, 484–485

  • Acrodysostosis, 626

  • Albright Hereditary Osteodystrophy, 628

  • Antley-Bixler S., 596

  • Atelosteogenesis, Type I, 460

  • Autosomal Recessive Chondrodysplasia Punctata, 530

  • Blepharophimosis-Ptosis-Epicanthus Inversus S., 326

  • Boomerang Dysplasia, 472

  • Campomelic Dysplasia, 482

  • Cantú S., 618

  • Carpenter S., 592

  • Chondrodysplasia Punctata, X-Linked Dominant Type, 530

  • Cleidocranial Dysostosis, 566

  • Costello S., 152

  • Curry-Jones S., 586

  • Deletion 2q37 S., 84

  • Deletion 9p S., 40

  • Deletion 11q S., 50

  • Deletion 18p S., 56

  • Deletion 18q S., 58

  • Desbuquois Dysplasia, 632

  • Donnai-Barrow S., 354

  • Down S., 1 , 566

  • Duplication 10q S., 46

  • Fetal Hydantoin S., 792

  • Fetal Valproate S., 794

  • Fetal Warfarin S., 796

  • Fibrochondrogenesis, 464

  • GAPO S., 778

  • Hypohidrotic Ectodermal Dysplasia, 760

  • Kniest Dysplasia, 506

  • Larsen S., 604

  • Laurin-Sandrow S., 376

  • Leroy I-Cell S., 638

  • Marshall S., 366

  • Marshall-Smith S., 214

  • Microdeletion 15q24 S., 90

  • Mohr S., 384

  • Mowat-Wilson S., 840

  • Mucopolysaccharidosis I H, I H/S, I S, 642

  • Nablus Mask-Like Facial S., 262

  • Noonan S., 148

  • 1p36 Deletion S., 76

  • Osteogenesis Imperfecta S., Type I, 682

  • Osteogenesis Imperfecta S., Type II, 682

  • Oto-Palato-Digital S., Type II, 546

  • Pfeiffer S., 574

  • Rapp-Hodgkin Ectodermal Dysplasia, 766f

  • Retinoic Acid Embryopathy., 800

  • Schinzel-Giedion S., 306

  • Stickler S., 410

  • Thanatophoric Dysplasia, 478

  • 3 C S., 310

  • Toriello-Carey S., 244

  • Triploidy S. and Diploid/Triploid Mixoploidy S., 24

  • Vici S., 864

  • Weaver S., 210

  • Williams S., 144

  • X-Linked α-Thalassemia/Mental Retardation S., 404

  • Xq Distal Duplication or Disomy, 96

  • XXXXX S., 68

  • XXXY and XXXXY S., 65

  • Zellweger S., 296

Occasional in

Prominent Nasal Bridge

Frequent in

Occasional in

  • Opitz G/BBB S., 170

  • Microdeletion 17q21 S., 92

Broad Nasal Bridge

Frequent in

Broad Nasal Root

Frequent in

Small or Short Nose, with or without Anteverted Nostrils

Frequent in

Occasional in

  • Cranioectodermal Dysplasia, 774

  • Craniometaphyseal Dysplasia, 542

  • Down S., 1

  • Spondylocarpotarsal Synostosis S., 602

  • Trisomy 13 S., 15

  • Waardenburg S., 358

  • XXXY and XXXXY S., 64

Hypoplasia of Nares and/or Alae Nasi

Frequent in

Occasional in

Prominent Nose (Relative)

Frequent in

  • Alagille S. (bulbous), 822

  • Coffin-Lowry S., 402

  • Deletion 13q S., 52

  • Deletion 22q13 S. (bulbous), 94

  • Duplication 9p S., 42

  • Duplication 15q S., 54

  • Finlay-Marks S. (broad tip), 768

  • Floating-Harbor S. (bulbous), 110

  • Langer-Giedion S. (bulbous), 416

  • Methimazole/Carbimazole Embryopathy (broad tip), 802

  • Microcephalic Primordial Dwarfing S., 128

  • Microdeletion 17q21 S., 92

  • Microdeletion 22q11.2 S., 386

  • Mowat-Wilson S., 840

  • Pitt-Hopkins S., 272

  • Pyknodysostosis, 564

  • Rubinstein-Taybi S., 107

  • Smith-Lemli-Opitz S. (broad tip), 134

  • 3-M S., 118

  • Tricho-Rhino-Phalangeal S., Type I, 416

  • Trisomy 8 S., 18

  • Trisomy 13 S. (bulbous), 14

Occasional in

  • Bloom S., 122

  • Ectrodactyly–Ectodermal Dysplasia–Clefting S., 422

  • Mohr S. (broad tip), 384

  • Waardenburg S. (round tip), 358

Choanal Atresia

Frequent in

  • Antley-Bixler S., 596

  • CHARGE S., 356

  • Lenz-Majewski Hyperostosis S., 562

  • Mandibulofacial Dysostosis with Microcephaly, 364

  • Methimazole/Carbimazole Embryopathy, 802

  • Schinzel-Giedion S. (stenosis), 306

Occasional in

10

Maxilla and Mandible

Malar Hypoplasia

Frequent in

  • Atelosteogenesis, Type I, 466

  • Bloom S., 122

  • Chondrodysplasia Punctata, X-Linked Dominant Type, 530

  • Ectrodactyly–Ectodermal Dysplasia–Clefting S., 422

  • Hajdu-Cheney S., 538

  • Hallermann-Streiff S., 132

  • Mandibulofacial Dysostosis with Microcephaly, 364

  • Marshall S., 366

  • Matthew-Wood S., 294

  • Microcephalic Primordial Dwarfing S., 128

  • Miller S., 118 , 370

  • Mohr S., 384

  • Nablus Mask-Like Facial S., 262

  • Nager S., 372

  • Oculo-Auriculo-Vertebral Spectrum, 904

  • Oto-Palato-Digital S., Type I, 544

  • Oto-Palato-Digital S., Type II, 546

  • Pallister-Hall S., 248

  • Pyknodysostosis, 564

  • Shprintzen-Goldberg S., 670

  • Spondyloepiphyseal Dysplasia Congenita, 502

  • Stickler S., 502

  • 3-M S., 118

  • Treacher Collins S., 362

Occasional in

Maxillary Hypoplasia, Often with Narrow or High-Arched Palate

Frequent in

Occasional in

  • Deletion 13q S., 52

  • Duplication 9p S., 42

  • Fetal Aminopterin/Methotrexate S., 798

  • Freeman-Sheldon S., 300

  • Hyperthermia-Induced Spectrum of Defects, 808

  • Meier-Gorlin S., 616

  • Oculodentodigital S., 392

  • Oral-Facial-Digital S., 380

  • Robinow S., 166

Micrognathia

Frequent in

Occasional in

  • Beals S., 666

  • Carpenter S., 592

  • CHARGE S., 356

  • Chondrodysplasia Punctata, X-Linked Dominant Type, 530

  • Diastrophic Dysplasia, 520

  • Distichiasis-Lymphedema S., 856

  • Fetal Alcohol S., 786

  • Fetal Valproate S., 794

  • Killian/Teschler-Nicola S., 288

  • Lenz-Majewski Hyperostosis S., 562

  • MURCS Association, 926

  • Noonan S., 148

  • Radial Aplasia–Thrombocytopenia S., 456

  • Rubinstein-Taybi S., 106

  • Smith-Magenis S., 266

  • Sternal Malformation–Vascular Dysplasia Spectrum, 912

  • Trisomy 13 S., 14

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