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Potocki-Shaffer syndrome

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).

ORPHA:52022

  • Synonym(s):
    • 11p11.2 deletion
    • Proximal 11p deletion syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 601224
  • UMLS: C1832588
  • MeSH: C538356
  • GARD: 9762
  • MedDRA: -

Additional information

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