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Myhre Syndrome

Abstract

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Synonyms of Myhre Syndrome

Growth-Mental Deficiency Syndrome of Myhre

Disorder Subdivisions

No subdivisions found.

General Discussion

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.

Organizations related to Myhre Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., short stature, mental retardation, congenital heart defects, etc.].)

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