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Deafness-epiphyseal dysplasia-short stature syndrome

Disease definition

This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).


  • Synonym(s):
    • Chitty-Hall-Baraitser syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: 601351
  • UMLS: C1832438
  • MeSH: -
  • GARD: 1688
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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