Coffin-Siris Syndrome: A rare genetic disorder characterized by underdeveloped or absent fifth finger and toenails and coarse facial features. More detailed information about the symptoms, causes, and treatments of Coffin-Siris Syndrome is available below.
See full list of 24 symptoms of Coffin-Siris Syndrome
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See full list of 31 occasional symptoms of Coffin-Siris Syndrome
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Read more about Misdiagnosis and Coffin-Siris Syndrome
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Types of Coffin-Siris Syndrome
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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. - (Source - Diseases Database)
Coffin-Siris Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Coffin-Siris Syndrome, or a subtype of Coffin-Siris Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Coffin-Siris Syndrome as a "rare disease".
Source - Orphanet
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