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Megalocornea Mental Retardation Syndrome

Abstract

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NORD is very grateful to Lucia Margari, MD, Professor of Child Neuropsychiatry, Department of Neurological and Psychiatric Sciences, Bari, Italy, for assistance in the preparation of this report.

Synonyms of Megalocornea Mental Retardation Syndrome

  • MMR syndrome
  • Neuhauser syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Megalocornea-mental retardation (MMR) syndrome, otherwise known as Neuhauser syndrome, is an extremely rare genetic disorder characterized by distinctive abnormalities of the eye, several degrees of cognitive impairment, and a wide variety of additional symptoms The range and severity of the symptoms varies greatly from one person to another, which has led some researchers to suggest that MMR syndrome encompasses several distinct, but similar disorders. The exact cause of the disorder is unknown. Some cases appear to follow an autosomal recessive inheritance pattern.

Organizations related to Megalocornea Mental Retardation Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., eye abnormalities, visual impairment, mental retardation, neuromuscular abnormalities, short stature, craniofacial abnormalities, etc.].)

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