Coffin-Lowry syndrome


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia, Wikipedia.

Cof·fin-Low·ry syn·drome

(kof'ĭn low'rē), [MIM*303600]
characterized by coarse facial features with bulbous nose, large ears, and thick lips; short stature; tapered fingers; skeletal anomalies and mental retardation. X-linked recessive inheritance, caused by mutation in the ribosomal S6 kinase gene (RSK) on chromosome Xp.

Coffin-Lowry syndrome

(kŏf′ĭn low′rē)
A rare, X-linked genetic syndrome characterized by abnormalities of the head, face, and axial skeleton; mental retardation; short stature; and weak muscle tone.

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

Lowry,

R. Brian, 20th century Irish medical geneticist in Canada.
Coffin-Lowry syndrome - Synonym(s): Coffin-Siris syndrome
References in periodicals archive ?
Coffin-Lowry syndrome. Orphanet Encyclopedia; 2001.
The movement disorders of Coffin-Lowry syndrome. Brain Dev 2005; 27:108-13.
Coffin-Lowry Syndrome Foundation PO Box 10003 Bainbridge Island, WA 98110 (206) 842-1523 1,2,4,10