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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:2588Classification level: Disorder
Eleven sporadic cases have been described so far, all of whom were males.
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.
Article for general public
- Clinical genetics review
- English (2017)