Simpson Dysmorphia Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Simpson Dysmorphia Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Bulldog Syndrome
- DGSX Golabi-Rosen Syndrome, Included
- Dysplasia Gigantism Syndrome, X-Linked
- SGB Syndrome
- Simpson-Golabi-Behmel Syndrome
Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth). In addition, affected individuals have characteristic facial features, more than two nipples (super-numerary nipples), and multisystemic malformations that may vary from child to child. Chief among these are cardiac malformations, mild to moderate mental retardation, cleft palate, and more than the five fingers and/or toes (polydactyly).
Symptoms associated with the more common form, Simpson dysmorphia syndrome type 1 (SDYS1), are less severe than those presented in SDYS2.
Individuals usually reach an above-average height. The general distinguishing features typically become less apparent in adulthood.
Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
FACES: The National Craniofacial Association
P. O. Box 11082
Chattanooga, TN 37401
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
For a Complete Report
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html