| H01095 | |
| H number | H01095 |
| Name | Syndactyly |
| Description | Syndactyly (SDTY) is the common hereditary limb malformations depicting the fusion of certain fingers and/or toes. At least nine non-syndromic syndactylies with additional sub-types have been characterized. Most of the syndactyly types are inherited as autosomal dominant but two autosomal recessive and an X-linked recessive entity have also been described. |
| Category | Congenital malformation |
| Network | - |
| Gene | (SDTY2/5) HOXD13 [HSA:3239] [KO:K09298] (SDTY3) GJA1 [HSA:2697] [KO:K07372] (SDTY4) LMBR1 [HSA:64327] [KO:K25217] (SDTY9) BHLHA9 [HSA:727857] [KO:K24145] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | SDTY2 is also known as Synpolydactyly. |
| Other DBs | ICD-11: LB79 ICD-10: Q70 MeSH: D013576 OMIM: 185900 186000 186100 186200 186300 609432 |
| Reference | PMID:22333904 AUTHORS Malik S TITLE Syndactyly: phenotypes, genetics and current classification. JOURNAL Eur J Hum Genet 20:817-24 (2012) DOI:10.1038/ejhg.2012.14 PMID:15039974 AUTHORS Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik KH TITLE A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. JOURNAL Am J Med Genet A 126A:61-7 (2004) DOI:10.1002/ajmg.a.20555 PMID:8817328 (HOXD13, SDTY2) AUTHORS Akarsu AN, Stoilov I, Yilmaz E, Sayli BS, Sarfarazi M TITLE Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. JOURNAL Hum Mol Genet 5:945-52 (1996) DOI:10.1093/hmg/5.7.945 PMID:16222680 (HOXD13, SDTY5) AUTHORS Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N TITLE A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. JOURNAL Am J Med Genet A 138:328-39 (2005) DOI:10.1002/ajmg.a.30971 PMID:14729836 (GJA1) AUTHORS Richardson R, Donnai D, Meire F, Dixon MJ TITLE Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. JOURNAL J Med Genet 41:60-7 (2004) DOI:10.1136/jmg.2003.012005 PMID:18417549 (LMBR1) AUTHORS Sun M, Ma F, Zeng X, Liu Q, Zhao XL, Wu FX, Wu GP, Zhang ZF, Gu B, Zhao YF, Tian SH, Lin B, Kong XY, Zhang XL, Yang W, Lo WH, Zhang X TITLE Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer. JOURNAL J Med Genet 45:589-95 (2008) DOI:10.1136/jmg.2008.057646 PMID:25466284 (BHLHA9) AUTHORS Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH TITLE Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. JOURNAL Am J Hum Genet 95:649-59 (2014) DOI:10.1016/j.ajhg.2014.10.012 |