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…
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 similar features at autopsy in 1916. As the molecular etiology…
1p36 Deletion Syndrome (Monosomy 1p36 Deletion Syndrome) Large Anterior Fontanel, Deep-Set Eyes, Pointed Chin First delineated in 1997 as a recognizable pattern of malformation, monosomy 1p36 is the most commonly observed terminal deletion in the human population with an estimated…
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 that a “large number of congenital idiots are typical Mongols,”…