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Cof·fin-Si·ris syn·drome(kof'ĭn sir'ĭs), [MIM*135900]
characterized by mental retardation, bulbous nose, flat nasal bridge, moderate hirsutism, and digital anomalies with absence or hypoplasia of the nail and terminal phalanx of the fifth finger and/or the fifth toe; probably autosomal dominant inheritance.
Synonym(s): fifth digit syndrome
Etymology: G.S. Coffin; Evelyn Siris, American radiologist, 1914-1987
hypoplasia or absence of the fifth fingers and toenails associated with growth and mental deficiencies; coarse facies; mild microcephaly; hypotonia; lax joints; mild hirsutism; and occasionally cardiac, vertebral, or GI anomalies.
Coffin,Grange S., U.S. pediatrician, 1923–.
Coffin-Lowry syndrome - Synonym(s): Coffin-Siris syndrome
Coffin-Siris syndrome - mental retardation with wide bulbous (pugilistic) nose, low nasal bridge, moderate hirsutism, and digital anomalies. Synonym(s): Coffin-Lowry syndrome
Siris,Evelyn, U.S. radiologist, 1914-1987.
Coffin-Siris syndrome - see under Coffin