Megalocornea Mental Retardation Syndrome
You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.
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
- No subdivisions found.
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.].)
The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and the credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions is strictly prohibited.
Copyright 1997, 1998, 1999, 2010
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.