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Coffin-siris syndrome

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Coffin-siris syndrome

(Science: syndrome) mental retardation with wide bulbous (pugilistic) nose, low nasal bridge, moderate hirsutism, and digital anomalies with nail hypoplasia (especially of the fifth fingers).

The full syndrome occurs only in males, but female relatives may have abnormal fingers and mild mental retardation.

Inheritance: x-linked, incompletely recessive.

Synonym: coffin-lowry syndrome.