Potocki-Shaffer syndrome
From BugSigDB
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).
- Aliases
- 11p11.2 deletion
- chromosome 11P11.2 deletion syndrome
- Defect11 syndrome
- deletion of chromosome 11p11.2
- Potocki-Shaffer syndrome
- Potocki-Shaffer syndrome
- Proximal 11p deletion syndrome
- proximal 11P deletion syndrome
- proximal 11p deletion syndrome
- PSS
