KBG syndrome

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.

KBG syndrome
A KBG syndrome patient with typical facial dysmorphisms
Symptoms	macrodontia, brachycephaly, hypertelorism, synophrys, long philtrum, thin upper lip

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