|a) frontal b)lateral view of KBG syndrome individual-facial dysmorphisms including low frontal hairline, mild synophrys, hypertelorism|
|Symptoms||macrodontia, brachycephaly, hypertelorism, synophrys, long philtrum, thin upper lip|
|Causes||ANKRD11 gene mutation|
KBG syndrome is a genetic disease that is the result of a mutation in the ANKRD11 gene at location 16q24.3. Features include unusually large upper front teeth (macrodontia), wide, short skull (brachycephaly), widely spaced eyes (hypertelorism), and wide eyebrows that may grow together in the middle (synophrys).
- Online Mendelian Inheritance in Man (OMIM): KBG syndrome - 148050
- "KBG syndrome". Genetics Home Reference. U.S. Department of Health & Human Services, National Library of Medicine. Archived from the original on 2022-01-25. Retrieved 2021-02-03.
- Herrmann J, Pallister PD, Tiddy W, Opitz JM (1975). "The KBG syndrome-a syndrome of short stature, characteristic facies, mental retardation, macrodontia and skeletal anomalies". Birth Defects Original Article Series. 11 (5): 7–18. PMID 1218237.
- Morel Swols D, Foster J, Tekin M (December 2017). "KBG syndrome". Orphanet Journal of Rare Diseases. 12 (1): 183. doi:10.1186/s13023-017-0736-8. PMC 5735576. PMID 29258554.