Myhre syndrome is an extremely rare inherited disorder characterized by mental retardation, short stature, unusual facial features, and various bone (skeletal) abnormalities. Characteristic facial features may include abnormally narrow skin folds (palpebral fissures) between the upper and lower eyelids (blepharophimosis), underdevelopment of the upper jaw bone (maxillary hypoplasia), and an unusually prominent jaw (prognathism). Other findings may include hearing impairment, abnormal enlargement of the muscles (muscular hypertrophy), and/or joint stiffness. Myhre syndrome is thought to be inherited as an autosomal dominant genetic trait.

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1 comment on “M is for Myhre syndrome (#AtoZChallenge)”

  1. Hi I have a daughter with Myrhe syndrome. She is the only child recorded in Britain to have it. As it is so rare, I have no contact with families with children with the condition. Do you have contact with any other families.

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