| H00752 | |
| H number | H00752 |
| Name | Ankyloblepharon-ectodermal 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 |
| Network | - |
| Gene | TP63 [HSA:8626] [KO:K10149] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD27.0Y ICD-10: Q87.8 MeSH: C535847 C535289 OMIM: 106260 129400 |
| Reference | PMID:20556892 AUTHORS Sutton VR, Bree AF, van Bokhoven H TITLE Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome JOURNAL GeneReviews (1993) PMID:20491771 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 PMID:19953814 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 |