KBG syndrome

KBG syndrome
A KBG syndrome patient with typical facial dysmorphisms
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]
  • Autism
  • ADHD
  • Anxiety
  • Developmental delays or mild to moderate intellectual disabilities

References

1. Online Mendelian Inheritance in Man (OMIM): KBG syndrome - 148050
2. 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.
3. 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.
4. "Characteristics - KBG Syndrome".
5. "Characteristics - KBG Syndrome".
6. "Characteristics - KBG Syndrome".

Patient support organizations

KBG Foundation