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Potocki-Shaffer syndrome

Disease definition

A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioral abnormalities, myopia, strabismus, and sensorineural hearing loss, among others.

ORPHA:52022

Classification level: Disorder
  • 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: -
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