/Potocki-Shaffer syndrome

Potocki-Shaffer syndrome

Rare Disease

MONDO:0011022

Also Known As

11p11.2 deletionPotocki-Shaffer syndromeproximal 11p deletion syndromeDefect11 syndromePSSchromosome 11P11.2 deletion syndromedeletion of chromosome 11p11.2proximal 11P deletion syndrome

Definition

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).