Sturge-Weber Syndrome Flat Facial Hemangiomata, Meningeal Hemangiomata with Seizures The association and localization of aberrant vasculature in the facial skin, eyes, and meninges are compatible with a defect arising in a limited part of the cephalic neural crest, cells of…
Marfan Syndrome Arachnodactyly with Hyperextensibility, Lens Subluxation, Aortic Dilatation Described as dolichostenomelia in the initial report by Marfan, this disorder was extensively studied and recognized as an autosomal dominant connective tissue disorder by McKusick. In 2010, an international expert panel…
Mucolipidosis II (Leroy I-Cell disease) Early Alveolar Ridge Hypertrophy, Joint Limitation, Thick Tight Skin in Early Infancy This disorder was recognized by Leroy and DeMars when they noted unusual cytoplasmic inclusions in the cultured fibroblasts of a girl considered to…
Multiple Synostosis Syndrome (Symphalangism Syndrome) Symphalangism, Hypoplasia of Alae Nasi In the past this disorder was generally termed symphalangism (synostosis of finger joints), a nonspecific anomaly. The multiple synostosis character of this disorder was emphasized by Maroteaux and colleagues, based…
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…