Coffin-Lowry syndrome


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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

[kof′in lou′rē]
Etymology: Grange S. Coffin, American pediatrician, b. 1923; R. Brian Lowry, Irish-born Canadian physician, 20th century
a condition with onset in the postnatal period characterized by incapability of speech; severe mental deficiency; and muscle, ligament, and skeletal abnormalities. It is transmitted with X-linked intermediate inheritance.

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