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Potocki-Shaffer syndrome

Disease Summary
Associated Targets (5)
Tbio

5


GARD Rare
Mondo Description Potocki-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).
Uniprot Description A syndrome characterized by foramina parietalia permagna, multiple exostoses, and craniofacial dysostosis and mental retardation in some cases.
Mondo Term and Equivalent IDs
MONDO:0011022:  Potocki-Shaffer syndrome
DOID:0111687: 
GARD:0009762: 
MESH:C538356: 
NCIT:C75456: 
Orphanet:52022: 
SCTID:702346005: 
UMLS:C1832588: