Forgot your password?
New user?
0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Lenz Microphthalmia Syndrome
Abstract
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 full Rare Disease reports to visitors who register on our website, for free. If you have already registered or if you are a subscriber, clicking the link to view the full report will give you an opportunity to log in. You will also be able to register or to reset your password. Registration is free and we do not share your information with anyone else, but you are limited to two full reports a day.
NORD is very grateful to John M. Opitz, MD, Department of Human Genetics, University of Utah School of Medicine, for assistance in the preparation of this report.
Synonyms of Lenz Microphthalmia Syndrome
- Lenz dysmorphogenetic syndrome
- Lenz dysplasia
- Lenz syndrome
- MAA
- microphthalmia or anophthalmos with associated anomalies (obsolete)
Disorder Subdivisions
- No subdivisions found.
General Discussion
Lenz Microphthalmia syndrome is an extremely rare inherited disorder characterized by abnormal smallness of one or both eyes (unilateral or bilateral microphthalmos) and/or droopy eyelids (blepharoptosis), resulting in visual impairment. In rare cases, affected infants may exhibit complete absence of the eyes (anophthalmia). Most affected infants also exhibit developmental delay and mental retardation, ranging from mild to severe. Additional physical abnormalities are often associated with this disorder such as an unusually small head (microcephaly) and/or malformations of the teeth, ears, and/or fingers and/or toes (digits). The range and severity of findings may vary from case to case.
Lenz microphthalmia syndrome, which is inherited as an X-linked recessive genetic trait, is fully expressed in males only. However, females who carry one copy of the disease gene (heterozygotes) may exhibit some of the symptoms associated with the disorder, such as an abnormally small head (microcephaly), short stature, and/or malformations of the fingers and/or toes.
BCOR (MAA2 locus) is the only gene known to be associated with this syndrome.
Organizations related to Lenz Microphthalmia Syndrome
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., visual handicaps, mental retardation, 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 1996, 1997, 2000, 2004, 2009, 2012
0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.
