KEGG DISEASE: Ectodermal dysplasia, ectrodactyly, and macular dystrophy

KEGG

DISEASE: Ectodermal dysplasia, ectrodactyly, and macular dystrophy

Entry

H00639                      Disease

Name

Ectodermal dysplasia, ectrodactyly, and macular dystrophy;
EEM syndrome

Description

Ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM syndrome) is the rare association of several clinical features caused by defects in CDH3. The ectodermal defect is characterized by hypotrichosis with sparse and short scalp hair, eyebrows, and eyelashes. Digit deficiency/syndactyly in hands is often more severe than the feet. Bilateral retinal degeneration appears as prominent pigmentation of the retina.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00639  Ectodermal dysplasia, ectrodactyly, and macular dystrophy

Pathway

Cell adhesion molecules

Gene

CDH3 [HSA:1001] [KO:K06796]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Senecky Y, Halpern GJ, Inbar D, Attias J, Shohat M

Title

Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings.

Journal

Am J Med Genet 101:195-7 (2001)
DOI:10.1002/ajmg.1361

Reference

Authors

Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T

Title

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).

Journal

J Med Genet 42:292-8 (2005)
DOI:10.1136/jmg.2004.027821

Reference

Authors

Priolo M

Title

Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms.

Journal

Am J Med Genet A 149A:2003-13 (2009)
DOI:10.1002/ajmg.a.32804

LinkDB

» Japanese version

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