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
Symptomsmacrodontia, 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

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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

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  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

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KBG Foundation

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