KBG syndrome explained

KBG syndrome
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. 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.^[1] Herrmann proposed the name KBG syndrome after the initials of affected families' last names,^[2] which aren't known to the general public.

Characteristics

Features of individuals with KBG may include:

• Distinctive facial features^[3]
  • 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^[4]
  • Cervical ribs
  • Delayed bone age
  • Curved Pinky Fingers
  • Flat Feet
  • Short Stature
• Emotional or behavioral changes^[5]
  • Autism
  • ADHD
  • Anxiety
  • Developmental delays or mild to moderate intellectual disabilities

Patient support organizations

KBG Foundation

Notes and References

1. Herrmann J, Pallister PD, Tiddy W, Opitz JM . 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 . 1218237 .
2. Morel Swols D, Foster J, Tekin M . KBG syndrome . Orphanet Journal of Rare Diseases . 12 . 1 . 183 . December 2017 . 29258554 . 5735576 . 10.1186/s13023-017-0736-8 . free .
3. Web site: Characteristics - KBG Syndrome .
4. Web site: Characteristics - KBG Syndrome .
5. Web site: Characteristics - KBG Syndrome .