Medicine:KBG syndrome
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KBG syndrome | |
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Symptoms | macrodontia, brachycephaly, hypertelorism, synophrys, long philtrum, thin upper lip |
KBG 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] Herrmann proposed the name KBG syndrome after the initials of affected families' last names,[3] which aren't known to the general public.
Characteristics
Features of individuals with KBG may include:
- Distinctive facial features[4]
- Unusually large upper front teeth (macrodontia)
- A short, wide skull (brachycephaly)
- Wide eyebrows that may grow together (synophrys)
- Prominent nasal bridge
- Thin upper lip
- Widely spaced eyebrows (hypertelorism)
- A longer space between the bridge of the nose and upper lip (long philtrum)
- Skeletal abnormalities[5]
- Cervical ribs
- Delayed bone age
- Curved Pinky Fingers
- Flat Feet
- Short Stature
- Emotional or behavioral changes[6]
References
- ↑ Online Mendelian Inheritance in Man (OMIM) KBG syndrome -148050
- ↑ "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. 1975. PMID 1218237.
- ↑ "KBG syndrome". Orphanet Journal of Rare Diseases 12 (1): 183. December 2017. doi:10.1186/s13023-017-0736-8. PMID 29258554.
- ↑ "Characteristics - KBG Syndrome". https://www.kbgsyndrome.org/characteristics.
- ↑ "Characteristics - KBG Syndrome". https://www.kbgsyndrome.org/characteristics.
- ↑ "Characteristics - KBG Syndrome". https://www.kbgsyndrome.org/characteristics.
Patient support organizations
External links
Classification | |
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External resources |
![]() | Original source: https://en.wikipedia.org/wiki/KBG syndrome.
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