H00846 | |
H number | H00846 |
Name | Fuhrmann syndrome; Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly |
Description | Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia of fibulae, severe bowing of femora, absence of nails, and polydactyly. |
Category | Congenital malformation |
Network | nt06505(H00846) WNT signaling |
Gene | WNT7A [HSA:7476] [KO:K00572] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD26.Y ICD-10: Q74.8 MeSH: C538189 OMIM: 228930 |
Reference | PMID:1785629 AUTHORS Lipson AH, Kozlowski K, Barylak A, Marsden W TITLE Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. JOURNAL Am J Med Genet 41:176-9 (1991) DOI:10.1002/ajmg.1320410208 PMID:7363910 AUTHORS Fuhrmann W, Fuhrmann-Rieger A, de Sousa F TITLE Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome. JOURNAL Eur J Pediatr 133:123-9 (1980) DOI:10.1007/BF00441580 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 |