Brachydactyly type A4

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Classification according to ICD-10
Q73.8 Other reduction defects of unspecified extremity (s)
ICD-10 online (WHO version 2019)

The brachydactyly type A4 is a form of brachydactyly , a very rare congenital malformation of the skeleton with brachymesophalangia and characteristic deformity of the 2nd and the 5th finger.

Synonyms are: brachydactyly type Temtamy; Brachymesophalangia II and V

The first description comes from 1978 by the Egyptian human geneticist SA Temtamy and VA McKusick .

The disease is not to be confused with the autosomal - recessive präaxialem Temtamy brachydactyly syndrome (TPBS).

distribution

The frequency is unknown; only a few affected families have been reported to date. Inheritance is probably autosomal dominant .

Clinical manifestations

Clinical criteria are:

There may also be a lack of middle phalanges on the toes.

diagnosis

The diagnosis is based on clinical and radiological findings.

Differential diagnosis

Other forms of brachydactyly such as brachydactyly type C and Catel-Manzke syndrome must be distinguished .

literature

  • H. Reichenbach, D. Hörmann, H. Theile: [Brachydactyly type A4 (brachymesophalangia II and V, Temtamy type). A rare type of brachydactyly]. In: Pediatric Practice. Volume 61, Number 2, March 1993, pp. 59-62, PMID 8510402 .
  • T. Ohzeki, K. Hanaki, H. Motozumi, H. Ohtahara, K. Shiraki, K. Yoshioka: Brachydactyly type A-4 (Temtamy type) with short stature in a Japanese girl and her mother. In: American journal of medical genetics. Volume 46, Number 3, May 1993, pp. 260-262, doi: 10.1002 / ajmg.1320460303 , PMID 8387724 .

Individual evidence

  1. ↑ a b c Brachydactyly type A4. In: Orphanet (Rare Disease Database).
  2. ^ SA Temtamy, VA McKusick: The Genetics of Hand Malformations. New York: Alan R. Liss (Editor) 1978.
  3. ^ Temtamy preaxial brachydactyly syndrome. In: Orphanet (Rare Disease Database).

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