Matthew Wood Syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q11.2 Microphthalmos
ICD-10 online (WHO version 2019)

The Matthew-Wood syndrome is a very rare congenital disease with a anophthalmia combined with pulmonary hypoplasia and is one of the syndromic Mikrophthalmien .

Synonyms are: anophthalmia - pulmonary hypoplasia; Microphthalmia, syndromic, type; MCOPS9

The name was suggested by the authors of the first description in 1996 by Mary J. Seller, Teresa B. Davis and collaborators at the request of their parents.

distribution

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

root cause

The disease are mutations in STRA6 - gene on chromosome 15 locus q24.1 basis.

Clinical manifestations

Clinical criteria are:

  • Microphthalmia
  • Pulmonary hypoplasia

further malformations can also occur.

Differential diagnosis

A distinction must be made with the autosomal dominant inherited syndromic microphthalmia type 12 (MCOPS12) with mutations in the RARB gene in chromosome 3 p24.2

literature

  • F. Pasutto, F. Flinter, A. Rauch, A. Reis: Novel STRA6 null mutations in the original family described with Matthew-Wood syndrome. In: American journal of medical genetics. Part A. Volume 176, number 1, 01 2018, pp. 134-138, doi: 10.1002 / ajmg.a.38529 , PMID 29168296 .
  • S. Sadowski, N. Chassaing, Z. Gaj, E. Czichos, J. Wilczynski, D. Nowakowska: Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome. In: Birth defects research. Volume 109, number 4, March 2017, pp. 251-253, doi: 10.1002 / bdra.23465 , PMID 28398665 .

Individual evidence

  1. ↑ a b c Matthew Wood Syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ MJ Seller, TB Davis, CN Fear, FA Flinter, I. Ellis, AG Gibson: Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). In: American journal of medical genetics. Volume 62, Number 3, March 1996, pp. 227-229, doi : 10.1002 / (SICI) 1096-8628 (19960329) 62: 3 <227 :: AID-AJMG5> 3.0.CO; 2-Q , PMID 8882778 .
  3. ↑ Microphthalmia, syndromic 9.  In: Online Mendelian Inheritance in Man . (English)
  4. ↑ Microphthalmia, syndromic 12.  In: Online Mendelian Inheritance in Man . (English)

Web links