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Potocki-Shaffer syndrome

Orpha number ORPHA52022
Synonym(s) 11p11.2 deletion
Proximal 11p deletion syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Unknown
Age of onset Neonatal/infancy
ICD-10
  • Q93.5
OMIM
UMLS
  • C1832588
MeSH
  • C538356
MedDRA -
SNOMED CT -

Summary

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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