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Important
General DiscussionKBG syndrome is a very rare genetic disorder characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. Abnormalities of the head and face (craniofacial dysmorphism) and malformations of the teeth and jaws (dento- skeletal dysplasia) may also be present. The exact cause of KBG syndrome is unknown, but most cases are believed to be autosomal dominant traits with variable degree of penetrance. Supporting OrganizationsChildren's Craniofacial Association
FACES: The National Craniofacial Association
Genetic and Rare Diseases (GARD) Information Center
NIH/National Institute of Child Health and Human Development
NIH/National Institute of Dental and Craniofacial Research
New York State Office for People with Developmental Disabilities
The Arc
For a Complete ReportThis is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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