Preferred Label : Potocki-Shaffer syndrome;
ICD-11 definition : Potocki-Shaffer syndrome is a genetic syndrome characterized by multiple exostoses,
parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual
deficit and mild cranio-facial anomalies.;
ICD-11 synonym : 11p11.2 deletion syndrome;
Origin ID : 1587521558;
Automatic exact mappings (from CISMeF team)
Potocki-Shaffer syndrome is a genetic syndrome characterized by multiple exostoses,
parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual
deficit and mild cranio-facial anomalies.
