| H00846 | |
| H番号 | H00846 |
| 名称 | Fuhrmann 症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06505(H00846) WNT signaling |
| 病因遺伝子 | WNT7A [HSA:7476] [KO:K00572] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD26.Y ICD-10: Q74.8 MeSH: C538189 OMIM: 228930 |
| 文献 | PMID:1785629 著者 Lipson AH, Kozlowski K, Barylak A, Marsden W タイトル Fuhrmann syndrome of right-angle bowed femora, absence of fibulae and digital anomalies: two further cases. 雑誌 Am J Med Genet 41:176-9 (1991) DOI:10.1002/ajmg.1320410208 PMID:7363910 著者 Fuhrmann W, Fuhrmann-Rieger A, de Sousa F タイトル Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome. 雑誌 Eur J Pediatr 133:123-9 (1980) DOI:10.1007/BF00441580 PMID:16826533 著者 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 タイトル Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome. 雑誌 Am J Hum Genet 79:402-8 (2006) DOI:10.1086/506332 |