| H00847 | |
| H number | H00847 |
| Name | Al-Awadi/Raas-Rothschild syndrome; Ulna and fibula, absence of, with sever limb deficiency |
| Description | Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in AARRS whereas impairment is partial in Fuhrmann syndrome. |
| Category | Congenital malformation |
| Network | - |
| Gene | WNT7A [HSA:7476] [KO:K00572] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD26.Y ICD-10: Q87.2 MeSH: C535612 OMIM: 276820 |
| Reference | PMID:8423611 AUTHORS Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S TITLE Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance. JOURNAL J Med Genet 30:65-9 (1993) DOI:10.1136/jmg.30.1.65 PMID:16826533 AUTHORS Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S TITLE Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. JOURNAL Am J Hum Genet 79:402-8 (2006) DOI:10.1086/506332 PMID:21271649 AUTHORS Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A TITLE Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation. JOURNAL Am J Med Genet A 155A:332-6 (2011) DOI:10.1002/ajmg.a.33793 |