Coffin-Lowry syndrome


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 syndromeCoffin-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