KEGG   DISEASE: Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndromeHelp
Entry
H00752                      Disease                                

Name
Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
Description
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (also known as Hay-Wells syndrome) and Rapp-Hodgkin syndrome are rare ectodermal dysplasias characterized by ankyloblepharon filiforme adnatum and cleft lip/palate. Ectodermal findings include hair, nail, teeth and sweat gland dystrophies.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00752  Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin 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
    H00752  Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
BRITE hierarchy
Gene
TP63 [HSA:8626] [KO:K10149]
Other DBs
ICD-11: LD27.0Y
ICD-10: Q87.8
MeSH: C535847 C535289
OMIM: 106260 129400
Reference
PMID:20556892 (descritpion, gene)
  Authors
Sutton VR, Bree AF, van Bokhoven H
  Title
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
  Journal
GeneReviews (1993)
Reference
PMID:20491771 (descritpion, gene)
  Authors
Clements SE, Techanukul T, Holden ST, Mellerio JE, Dorkins H, Escande F, McGrath JA
  Title
Rapp-Hodgkin and Hay-Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder.
  Journal
Br J Dermatol 163:624-9 (2010)
DOI:10.1111/j.1365-2133.2010.09859.x
Reference
  Authors
Tosun G, Elbay U
  Title
Rapp-Hodgkin syndrome: clinical and dental findings.
  Journal
J Clin Pediatr Dent 34:71-5 (2009)
DOI:10.17796/jcpd.34.1.kr015833p1qg6873

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