MIDAS syndrome

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Classification according to ICD-10
Q11.2 Microphthalmos
ICD-10 online (WHO version 2019)

The MIDAS syndrome is a very rare congenital disease with a combination of microphthalmia with other malformations such as aplasia of the cutis and sclerocornea . It is a form of syndromic microphthalmia .

Synonyms are: Syndromal microphthalmia type 7, (MCOPS7), microphthalmia - skin aplasia - sclerocornea; MLS syndrome; Microphthalmia - skin aplasia - sclerocornea, English Linear skin defects with mutliple congenital anomalies

The term "MIDAS" is an acronym for Mi krophthalmie, d ermale A hyperplasia and S klerokornea, "MLS" stands for M ikrophthalmie - L inear skin defects - S yndrom.

The first description is from 1990 by LI Al Gazali and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 50 people have been reported. Inheritance is X-linked dominant .

root cause

The disease are mutations in HCCS - gene on the X chromosome locus p22.2 based on which type c-for holocytochrome synthase coded.

Clinical manifestations

Clinical criteria are:

  • Eye malformations: microphthalmia, orbital cyst, corneal opacity
  • Linear skin defects on the neck , head and chin

In addition, there may be corpus callosum agenesis , sclerocornea, chorioretinal changes, hydrocephalus , epilepsy , intellectual disability, and nail dystrophy .

diagnosis

The diagnosis results from the combination of clinical and ophthalmological findings.

Differential diagnosis

The other forms of syndromic microphthalmia must be distinguished.

literature

  • MC Herwig, KU Loeffler, U. Gembruch, K. Kuchelmeister, AM Müller: Anterior segment developmental anomalies in a 33-week-old fetus with MIDAS syndrome. In: Pediatric and developmental pathology: the official journal of the Society for Pediatric Pathology and the Pediatric Pathology Society. Volume 17, number 6, 2014 Nov – Dec, pp. 491–495, doi: 10.2350 / 13-11-1408-CR.1 , PMID 25291437 .
  • O. Dereure: Mutations de COX 7B in the syndrome MIDAS or microphtalmie avec lésions cutanées linéaires. In: Annales de dermatologie et de venereologie. Volume 140, number 5, May 2013, pp. 405-406, doi: 10.1016 / j.annder.2013.02.001 , PMID 23663720 .
  • CJ Cape, GW Zaidman, AD Beck, AH Kaufman: Phenotypic variation in ophthalmic manifestations of MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea). In: Archives of ophthalmology. Volume 122, Number 7, July 2004, pp. 1070-1074, doi: 10.1001 / archopht.122.7.1070 , PMID 15249380 .

Individual evidence

  1. ↑ a b c Microphthalmia-Linear Skin Defect Syndrome. In: Orphanet (Rare Disease Database).
  2. ^ Gene Reviews
  3. ↑ LI al-Gazali, RF Mueller, A. Caine, A. Antoniou, A. McCartney, M. Fitchett, NR Dennis: Two 46, XX, t (X; Y) females with linear skin defects and congenital microphthalmia: a new syndrome at Xp22.3. In: Journal of Medical Genetics . Volume 27, Number 1, January 1990, pp. 59-63, PMID 2308157 , PMC 1016884 (free full text).
  4. ^ Linear skin defects with multiple congenital anomalies 1.  In: Online Mendelian Inheritance in Man . (English)

Web links