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Potocki-Shaffer syndrome
rarePotocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).
- Identifiers
- MONDO:0011022 OMIM:601224Orphanet:52022
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromePartial deletion of the short arm of chromosome 11Syndromic disease
- Also known as
- 11p11.2 deletion · deletion of chromosome 11p11.2 · proximal 11p deletion syndrome · PSS
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