EEM syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The EEM syndrome is a very rare congenital disease with a combination of malformations of the outer cotyledon ( ectodermal dysplasia ), of gap hand or split foot ( ectrodactyly ) and vision loss by macular degeneration . The abbreviation EEM stands for ectodermal , ectrodactyly and macular degeneration .

Epidemiology

The inheritance is probably autosomal - recessive , probably due to mutations in the cadherin-3 (CDH3) gene in chromosome region 16q22.1.

clinic

In the context of ectodermal dysplasia, hair disorders, tooth anomalies and the absence of eyebrows can also occur.

Diagnosis

The formation of gaps in the hand or foot can already be detected in the womb using sonography .

Differential diagnostics

Must be distinguished is the Hypotrichose with juvenile macular dystrophy .

therapy

A causal treatment is not known.

Individual evidence

  1. ↑ a b EEM syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ M. Hayakawa, K. Yanashima, K. Kato, A. Nakajima, H. Yamauchi: Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report). In: Ophthalmic paediatrics and genetics. Volume 10, Number 4, December 1989, pp. 287-292, ISSN  0167-6784 . PMID 2628819 .
  3. ↑ KW Kjaer, L. Hansen, GC Schwabe, AP Marques-de-Faria, H. Eiberg, S. Mundlos, N. Tommerup, T. Rosenberg: Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). In: Journal of medical genetics. Volume 42, Number 4, April 2005, pp. 292-298, ISSN  1468-6244 . doi: 10.1136 / jmg.2004.027821 . PMID 15805154 . PMC 1736041 (free full text).
  4. ^ LT Rios, E. Araujo Júnior, AC Caetano, LM Nardozza, AF Moron, MG Martins: Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound. In: Journal of clinical imaging science. Volume 2, 2012, p. 40, ISSN  2156-5597 . doi: 10.4103 / 2156-7514.99153 . PMID 22919554 . PMC 3424774 (free full text).

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