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…
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…
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…
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…
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…
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…
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…
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,…
Chromosomal Abnormality Syndromes Identifiable on Routine Karyotype Down Syndrome (Trisomy 21 Syndrome)Hypotonia, Flat Facies, Slanted Palpebral Fissures, Small Ears Down’s report in 1866 on the ethnic classification of idiots stated…
Cornelia de Lange syndrome (Brachmann–De Lange Syndrome) Synophrys, Thin Downturning Upper Lip, Micromelia The syndrome was originally reported in 1933 by Cornelia de Lange, although Brachmann described a child with…
