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Bookmark or Share- KBG Syndrome - GeneReviews® - NCBI BookshelfKBG syndrome is typically characterized by macrodontia (especially of the upper central incisors), characteristic facial features (triangular face, brachycephaly, synophrys, widely spaced eyes, broad or bushy eyebrows, prominent ears, prominent nasal bridge, bulbous nose, anteverted nares, long philtrum, and thin vermilion of the upper lip), sho...
- KBG Syndrome - Symptoms, Causes, Treatment | NORDDisease Overview. KBG syndrome (KBGS) is a rare genetic disorder characterized by large front teeth (macrodontia), characteristic facial features, short to normal stature, developmental delay or intellectual disability (the level of intellectual disability is usually mild, and there are also people with KBGS who have a normal development).
- KBG syndrome - WikipediaKBG syndrome is a rare genetic disease that is the result of a mutation in the ANKRD11 gene at location 16q24.3. [1] . Only about a hundred known cases have been reported, although it is expected to be under-reported. The syndrome was first described by Herrmann in 1975 in three distinct families. [2] .
- KBG syndrome - About the Disease - Genetic and Rare Diseases ...Disease at a Glance. Summary. KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability.
- KBG syndrome | Orphanet Journal of Rare Diseases | Full TextKBG syndrome is characterized by macrodontia of upper central incisors, distinctive craniofacial features such as triangular face, prominent nasal bridge, thin upper lip and synophrys; skeletal findings including short stature, delayed bone age, and costovertebral anomalies; and developmental delay/intellectual disability sometimes associated wi...
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