Catalog

Potocki-Shaffer syndrome

No MMS code

Link to WHO Definition

Potocki-Shaffer syndrome – http://id.who.int/icd/entity/1587521558

Potocki-Shaffer syndrome is a genetic syndrome characterised by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies.

Parents

LD44.B1 Deletions of the short arm of chromosome 11
Syndromic conditions with disorders of intellectual development as a relevant clinical feature