Beckwith Wiedemann 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.
Synonyms of Beckwith Wiedemann Syndrome
- EMG Syndrome
- Exomphalos-Macroglossia-Gigantism Syndrome
- Hypoglycemia with Macroglossia
- Macroglossia-Omphalocele-Visceromegaly Syndrome
- Omphalocele-Visceromegaly-Macroglossia Syndrome
- Visceromegaly-Umbilical Hernia-Macroglossia Syndrome
- Wiedmann-Beckwith Syndrome
- No subdivisions found.
Beckwith-Wiedemann syndrome (BWS) is a rare genetic overgrowth disorder. It is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from case to case. However, in many individuals, associated features include above-average birth and weight and increased growth after birth (postnatally), an usually large tongue (macroglossia), enlargement of certain internal organs (visceromegaly), and protrusion of a portion of the intestines and abdominal organs through a tear in the wall of the stomach or bellybutton (abdominal wall defects). BWS may also be associated with low blood sugar levels within the first few days or the first month of life (neonatal hypoglycemia), advanced bone age, particularly up to age four; distinctive grooves in the ear lobes and other facial abnormalities, abnormal enlargement of one side or structure of the body (hemihyperplasia) may occur, resulting in unequal (asymmetric) growth, and an increased risk of developing certain childhood cancers.
In approximately 85 percent of cases, BWS results from genetic changes that appear to occur randomly (sporadically). Approximately 10-15 percent of cases of this syndrome run in families and show autosomal dominant inheritance. Researchers have determined that BWS results from various abnormalities affecting the proper expression or structure of certain genes within a specific region of chromosome 11.
Organizations related to Beckwith Wiedemann Syndrome
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 1985, 1988, 1989, 1990, 1993, 1994, 1997, 1999, 2000, 2002, 2007
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.