Potocki-Shaffer syndrome

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).

Also known as: 11p11.2 deletion, Potocki-Shaffer syndrome, proximal 11p deletion syndrome, Defect11 syndrome, PSS, chromosome 11P11.2 deletion syndrome, deletion of chromosome 11p11.2, proximal 11P deletion syndrome

6 clinical trials for this condition and its sub-types.