Keipert syndrome

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Classification according to ICD-10
Q89.8 Other specified congenital malformations
ICD-10 online (WHO version 2019)

The Keipert syndrome or naso-digito-acoustic syndrome is a very rare congenital disease with the main features facial dysmorphism ( "Naso"), brachydactyly ( "digito") and deafness ( "acoustic").

The name refers to the first author of the first description from 1973 by JA Keipert and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, the cause and possible mode of inheritance are not known.

A mutation in the region Xq22.2 – Xq28 with an X-linked inheritance is suspected.

Clinical manifestations

Clinical criteria are:

Differential diagnosis

The following are to be distinguished:

literature

  • S. Nik-Zainal, SE Holder, M. Cruwys, CM Hall, C. Shaw-Smith: Keipert syndrome: two further cases and review of the literature. In: Clinical dysmorphology. Vol. 17, No. 3, July 2008, pp. 169-175, doi: 10.1097 / MCD.0b013e3282f4afc3 , PMID 18541962 (review).
  • SM Cappon, MM Khalifa: Additional case of Keipert syndrome and review of the literature. In: Medical science monitor: international medical journal of experimental and clinical research. Vol. 6, No. 4, 2000 Jul-Aug, pp. 776-778, PMID 11208408 (review).

Individual evidence

  1. ↑ a b Keipert syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ JA Keipert, MG Fitzgerald, DM Danks: A new syndrome of broad terminal phalanges and facial abnormalities. In: Australian pediatric journal. Vol. 9, No. 1, February 1973, pp. 10-13, PMID 4708024 .
  3. ↑ a b c NASODIGITOACOUSTIC SYNDROME.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ DJ Amor, HH Dahl, M. Bahlo, A. Bankier: Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. In: American journal of medical genetics. Part A. Vol. 143A, No. 19, October 2007, pp. 2236-2241, doi: 10.1002 / ajmg.a.31917 , PMID 17726694 .
  5. ↑ Teunissen-Cremers syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links