Coffin-Siris syndrome
From Wikipedia, the free encyclopedia
| Coffin-Siris syndrome Classification and external resources |
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| OMIM | 135900 |
|---|---|
| DiseasesDB | 32018 |
Coffin-Siris Sydrome is a rare genetic disorder which causes mental retardation and absent fifth finger and toe nails.
Synonyms include Dwarfism-Onychodysplasia, Fifth Digit Syndrome, Mental Retardation with Hypoplastic 5th Fingernails and Toenails, and Short Stature-Onychodysplasia.
[edit] Characteristics
- feeding difficulties upon birth
- frequent respiratory infections during infancy
- hypotonia
- joint laxity
- delayed bone age
- mental retardation
- short fifth digits with hypoplastic or absent nails
- microcephaly
- coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes
[edit] Causes
Autosomal recessive inheritance is the most likely, but sporadic mutations and autosomal dominant cases may also occur.
