Orphanet: Myhre syndrome

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Myhre syndrome

Disease definition

A rare multiple congenital anomalies syndrome characterized by muscular pseudohypertrophy, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and intellectual disability of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed.


Classification level: Disorder
  • Synonym(s):
    • Facial dysmorphism-intellectual disability-short stature-deafness syndrome
    • 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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