Disease Information for Coffin-Siris syndrome

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Definition

Mental and growth deficiency, nail onychodysplasia or aplasia (usually of the fifth finger or toe), short distal phalanges, coarse facies (usually bushy eyebrows, scant scalp hair, full lips, and microcephaly, and other abnormalities------------------------------------------------------------

Coffin Siris Syndrome; Dwarfism-Onychodysplasia; Fifth Digit Syndrome; Mental Retardation with Hypoplastic 5th Fingernails and Toenails;Short Stature-Onychodysplasia

This is a rare genetic disorder that may be evident at birth (congenital); The disorder may be characterized by feeding difficulties and frequent respiratory infections during infancy, diminished muscle tone (hypotonia), abnormal looseness (laxity) of the joints, delayed bone age, and mental retardation; In addition, affected infants and children typically have short fifth fingers ("pinkies") and toes with underdeveloped (hypoplastic) or absent nails; other malformations of the fingers and toes; and characteristic abnormalities of the head and facial (craniofacial) area, resulting in a coarse facial appearance; Craniofacial malformations may include an abnormally small head (microcephaly); a wide nose with a low nasal bridge; a wide mouth with thick, prominent lips; thick eyebrows and eyelashes (hypertrichosis); and sparse scalp hair;.

The underlying cause of Coffin-Siris syndrome is unknown; In most cases, the disorder is thought to result from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically); Familial cases have also been reported that suggest autosomal dominant or autosomal recessive inheritance [NORD 2005]---------------------------------------

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NEJM (The New England Journal of Medicine)
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