Storage Disorders
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…
PEDIATRICS
Miscellaneous Associations
VACTERL Association An association is a term used to designate the nonrandom tendency of some malformations to occur together more commonly than would be expected by chance, without being components…
Craniosynostosis Syndromes
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…
Facial-Limb Defects as Major Feature
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…
Limb Defect as Major Feature
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…
Facial Defects as Major Feature
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…
Osteochondrodysplasia with Osteopetrosis
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…
Early Overgrowth with Associated Defects
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…
Moderate Short Stature, Facial, ± Genital
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…
Senile-Like Appearance
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,…
