Gustavson Syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Gustavson syndrome is a very rare congenital to the non-syndromic X-linked mental retardation scoring disease with the main features of mental retardation , microcephaly , optic atrophy , deafness and epilepsy .

Synonyms are: mental retardation, severe X-linked, Gustavson type; English Mental Retardation With Optic Atrophy, Deafness, And Seizures

The name refers to the first author of the first description from 1993 by the Swedish human geneticist Karl-Henrik Gustavson and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is X-linked - recessive .

root cause

The disease is based on mutations on the X chromosome at locus q26.

Clinical manifestations

Clinical criteria are:

  • mental retardation
  • Microcephaly, spasticity , cerebral seizures
  • Optic nerve atrophy with impaired vision or blindness
  • Hearing loss
  • Facial dysmorphia
  • limited joint mobility.

All patients died in early childhood.

literature

  • H. Malmgren, M. Sundvall, N. Dahl, KH Gustavson, G. Annerén, C. Wadelius, ML Steén-Bondeson, U. Pettersson: Linkage mapping of a severe X-linked mental retardation syndrome. In: American Journal of Human Genetics . Vol. 52, No. 6, June 1993, pp. 1046-1052, PMID 8503440 , PMC 1682275 (free full text).

Individual evidence

  1. ↑ a b c Mental retardation, severe X-linked, Gustavson type. In: Orphanet (Rare Disease Database).
  2. ↑ KH Gustavson, G. Annerén, H. Malmgren, N. Dahl, CG Ljunggren, H. Bäckman: New X-linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death. In: American journal of medical genetics. Vol. 45, No. 5, March 1993, pp. 654-658, doi : 10.1002 / ajmg.1320450527 , PMID 8456840 .
  3. ^ Gustavson syndrome.  In: Online Mendelian Inheritance in Man . (English)