Hunter-Thompson type acromesomelic dysplasia

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Classification according to ICD-10
Q78.8 Other specified osteochondrodysplasias
ICD-10 online (WHO version 2019)

The Akromesomele dysplasia Hunter-Thompson (AMDH) is a form of very rare to the innate skeletal dysplasias associated akromesomelen dysplasia .

Synonym: short stature, akromesomeler

The name refers to a report from 1976 by the Canadian human geneticist AGW Hunter and MW Thompson.

The first writing dates from 1974 by the South African human geneticist Peter Beighton.

distribution

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

root cause

The disease are mutations in GDF5 - gene on chromosome 20 locus q11.22 based on which permanent cartilage for the morphogenetic protein 1 encoded (CDMP-1).

The same gene is also modified in type Grebe (AMDG) and in type C brachydactyly .

Clinical manifestations

Clinical criteria are:

  • pronounced short stature of the extremities , the lower more than the upper
  • often with dislocations
  • Spine and face normal
  • Hand and foot bones fusions

diagnosis

The diagnosis is based on clinical and radiological findings and genetic examination .

literature

  • LO Langer, J. Cervenka, M. Camargo: A severe autosomal recessive acromesomelic dysplasia, the Hunter-Thompson type, and comparison with the Grebe type. In: Human Genetics. Volume 81, Number 4, March 1989, pp. 323-328, PMID 2703235 .
  • SG Kant, A. Polinkovsky et al. a .: Acromesomelic Dysplasia Maroteaux Type Maps to Human Chromosome 9. In: The American Journal of Human Genetics. 63, 1998, p. 155, doi: 10.1086 / 301917

Individual evidence

  1. ↑ a b c d Dysplasia, acromesomele, Hunter-Thompson type. In: Orphanet (Rare Disease Database).
  2. ^ AG Hunter, MW Thompson: Acromesomelic dwarfism: description of a patient and comparison with previously reported cases. In: Human Genetics. Volume 34, Number 1, September 1976, pp. 107-113, PMID 964999 .
  3. ^ P. Beighton: Autosomal recessive inheritance in the mesomelic dwarfism of Campailla and Martinelli. In: Clinical genetics. Volume 5, Number 4, 1974, pp. 363-367, PMID 4850715 .
  4. ↑ Acromesomelic dysplasia, Hunter-Thompson type.  In: Online Mendelian Inheritance in Man . (English)

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