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Myhre syndrome

Disease definition

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

ORPHA:2588

  • Synonym(s):
    • Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 139210
  • UMLS: C0796081
  • MeSH: -
  • GARD: 2572
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

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