KEGG   DISEASE: Ectrodactyly-ectodermal dysplasia cleft-palate syndromeHelp
Entry
H00638                      Disease                                

Name
Ectrodactyly-ectodermal dysplasia cleft-palate syndrome;
EEC syndrome
Description
Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the hands and feet, ectodermal dysplasia affecting skin, hair, and nails, and cleft lip with or without cleft palate. Other symptoms include anomalies of eyes and urinary tract.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of skin
   H00638  Ectrodactyly-ectodermal dysplasia cleft-palate syndrome
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
    H00638  Ectrodactyly-ectodermal dysplasia cleft-palate syndrome
BRITE hierarchy
Gene
TP63 [HSA:8626] [KO:K10149]
Comment
Isolated ectrodactyly is described in split-hand/foot malformation (H00471).
Other DBs
ICD-11: LD27.0Y
ICD-10: Q82.4
MeSH: C565062 C565799
OMIM: 604292
Reference
  Authors
Trope BM, Salomao JN, Costa VD, Verde RB, Barros DS
  Title
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome.
  Journal
An Bras Dermatol 85:573-5 (2010)
DOI:10.1590/S0365-05962010000400027
Reference
PMID:1261073
  Authors
Rosenmann A, Shapira T, Cohen MM
  Title
Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.
  Journal
Clin Genet 9:347-53 (1976)
DOI:10.1111/j.1399-0004.1976.tb01585.x
Reference
  Authors
Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury-Ecob R, Hennekam RC, Van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H
  Title
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.
  Journal
Cell 99:143-53 (1999)
DOI:10.1016/S0092-8674(00)81646-3

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