Temtamy Preaxial Brachydactyly Syndrome

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Classification according to ICD-10
Q87.2 Congenital malformation syndromes with predominant involvement of the extremities
ICD-10 online (WHO version 2019)

The Temtamy preaxial brachydactyly syndrome (TPBS) is a very rare congenital disease with symmetrical malformations of fingers , mental retardation , hearing and dental changes.

Synonyms are: English Preaxial brachydactyly syndrome, Temtamy type; Mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies

The name refers to the first author of the first description from 1998 by the Egyptian human geneticist SA Temtamy and colleagues.

distribution

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

root cause

The disease are mutations in CHSY1 - gene on chromosome 15 locus q26.3 basis that the chondroitin synthase encoded first

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis arises from the clinical and radiological changes.

literature

  • G. Sher, M. Naeem: A novel CHSY1 gene mutation underlies Temtamy preaxial brachydactyly syndrome in a Pakistani family. In: European journal of medical genetics. Volume 57, number 1, January 2014, pp. 21-24, doi: 10.1016 / j.ejmg.2013.11.001 , PMID 24269551 .
  • Y. Li, K. Laue, S. Temtamy, M. Aglan, LD Kotan, G. Yigit, H. Canan, B. Pawlik, G. Nürnberg, EL Wakeling, OW Quarrell, I. Baessmann, MB Lanktree, M. Yilmaz, RA Hegele, K. Amr, KW May, P. Nürnberg, AK Topaloglu, M. Hammerschmidt, B. Wollnik: Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. In: American Journal of Human Genetics . Volume 87, number 6, December 2010, pp. 757-767, doi: 10.1016 / j.ajhg.2010.10.003 , PMID 21129728 , PMC 2997369 (free full text).
  • SA Temtamy: Catel-Manzke digitopalatal syndrome or Temtamy preaxial brachydactyly hyperphalangism syndrome? In: Clinical dysmorphology. Volume 14, Number 4, October 2005, p. 211, PMID 16155426 .

Individual evidence

  1. ↑ a b c Temtamy preaxial brachydactyly syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ SA Temtamy, NA Meguid, SI Ismail, MI Ramzy: A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies. In: Clinical dysmorphology. Volume 7, Number 4, October 1998, pp. 249-255, PMID 9823490 .
  3. ↑ Temtamy preaxial brachydactyly syndrome.  In: Online Mendelian Inheritance in Man . (English)

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