KBG syndrome
| KBG syndrome | |
|---|---|
 | |
| A KBG syndrome patient with typical facial dysmorphisms | |
| Symptoms | macrodontia, brachycephaly, hypertelorism, synophrys, long philtrum, thin upper lip |
| Causes | Mutation of the ANKRD11 gene |
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 are not 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
- Psychiatric features[6]
- Autism-like behavior
- ADHD
- Anxiety
- Mild to moderate intellectual disability
References
- ↑ Online Mendelian Inheritance in Man (OMIM): KBG syndrome - 148050
- ↑ 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.
- ↑ "Characteristics - KBG Syndrome".
- ↑ "Characteristics - KBG Syndrome".
- ↑ "Characteristics - KBG Syndrome".
Patient support organizations
External links
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