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Potocki-Shaffer syndrome

Synonym(s) 11p11.2 deletion
Proximal 11p deletion syndrome
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Infancy
  • Q93.5
  • C1832588
  • C538356
MedDRA -


Disease 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).

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