Meacham 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 Meacham syndrome is a very rare congenital malformation syndrome with abnormalities on the diaphragm , the sexual organs and the heart .

Synonyms are: Meacham-Winn-Culler syndrome; Rhabdomyomatous dysplasia - cardiopathy - genital abnormalities

The name refers to the first author (s) of the first description from 1991 by the US doctors Lillian R. Meacham, Kevin J. Winn, Floyd L. Culler and John S. Parks.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 15 affected people have been described. A possible inheritance is not known.

root cause

Of the disease are mutations in WT1 - gene on chromosome 11 locus p13 based encoding a DNA-binding zinc finger protein coded.

This gene is also involved in Denys-Drash syndrome and Frasier syndrome .

Clinical manifestations

Clinical criteria are:

Differential diagnosis

The following are to be distinguished:

Prospect of healing

The prognosis is poor, the patients described so far died in early childhood.

literature

  • M. Suri, P. Kelehan, D. O'neill, S. Vadeyar, J. Grant, SF Ahmed, J. Tolmie, E. McCann, W. Lam, S. Smith, D. Fitzpatrick, ND Hastie, W. Reardon: WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations. In: American journal of medical genetics. Part A. Vol. 143A, No. 19, October 2007, pp. 2312-2320, doi: 10.1002 / ajmg.a.31924 , PMID 17853480 .
  • OG Killeen, P. Kelehan, W. Reardon: Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations - another case of Meacham syndrome. In: Clinical dysmorphology. Vol. 11, No. 1, January 2002, pp. 25-28, PMID 11822701 .

Individual evidence

  1. ↑ a b c d e f Meacham syndrome. In: Orphanet (Rare Disease Database).
  2. ^ LR Meacham, KJ Winn, FL Culler, JS Parks: Double vagina, cardiac, pulmonary, and other genital malformations with 46, XY karyotype. In: American journal of medical genetics. Vol. 41, No. 4, December 1991, pp. 478-481, doi: 10.1002 / ajmg.1320410420 , PMID 1844355 .
  3. ↑ Meacham syndrome.  In: Online Mendelian Inheritance in Man . (English)

Web links