Saethre-Chotzen Syndrome (Acrocephalosyndactyly Type III) Brachycephaly with Maxillary Hypoplasia, Prominent Ear Crus, Syndactyly Originally described by Saethre and by Chotzen in the early 1930s, this disorder has an estimated prevalence of 1 in 25,000 to 1 in 50,000 live births.…
Osteopetrosis: Autosomal Recessive—Lethal (Infantile Malignant Osteopetrosis) Dense, Thick, Fragile Bone; Secondary Pancytopenia; Cranial Nerve Compression More than 100 cases of this genetically heterogeneous and commonly lethal group of disorders have been reported since the first cases were described. Two different…
Achondrogenesis Types IA and IB Low Nasal Bridge, Very Short Limbs, Incomplete Ossification of Lower Spine This early lethal disorder was described in 1925 by Donath and Vogl and termed achondrogenesis by Fraccaro in 1952. More than 20 cases have…
Poland Sequence Unilateral Defect of Pectoralis Muscle, Syndactyly of Hand In 1841, Poland reported unilateral absence of the pectoralis minor and the sternal portion of the pectoralis major muscles in an individual who also had cutaneous syndactyly of the hand…
Miller Syndrome (Genee-Wiedemann syndrome, Postaxial Acrofacial Dysostosis Syndrome) Treacher Collins–Like Facies; Limb Deficiency, Especially Postaxial In 1979, Miller and colleagues brought together six cases, four of which were from the literature, and recognized this disorder as a concise entity. The…
Moebius Sequence Sixth and Seventh Nerve Palsy The basic features of Moebius sequence are mask-like facies with sixth and seventh cranial nerve palsy, usually bilaterally. Minimal diagnostic criteria include congenital nonprogressive facial palsy, abduction deficits, and full vertical motility. Necropsy…
Amyoplasia Congenita Disruptive Sequence Arms Extended with Flexion of Hands and Wrists, Shoulders Internally Rotated with Decreased Muscle Mass, Bilateral Equinovarus, Variable Contractures of Other Major Joints Initially described by Paré in 1840, this disorder is the most frequent form…
Fragile X Syndrome (FXS, Martin-Bell Syndrome, Marker X Syndrome) Intellectual Disability, Mild Connective Tissue Dysplasia, Macroorchidism In 1943, Martin and Bell published the first pedigree documenting an X-linked form of intellectual disability. Lubs, in 1969, showed the presence of a…
Progeria Syndrome (Hutchinson-Gilford Syndrome) Early Aging with Alopecia, Atrophy of Subcutaneous Fat, Skeletal Hypoplasia and Dysplasia The following entry was recorded in the St. James Gazette in 1754: “March 19, 1754 died in Glamorganshire of mere old age and a…
Smith-Lemli-Opitz Syndrome Anteverted Nostrils, Ptosis of Eyelids, or Both; Syndactyly of Second and Third Toes; Hypospadias and Cryptorchidism in Male Four patients with this disorder were described by Smith and colleagues in 1964. Tint and colleagues in 1993 identified an…