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Myhre syndrome

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


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.


Eleven sporadic cases have been described so far, all of whom were males.

Genetic counseling

Increased paternal age was recorded in half of the cases, which suggests the existence of new dominant mutations although X-linked transmission cannot be ruled out.

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