| H00484 | |
| H number | H00484 |
| Name | Multiple synostosis syndrome |
| Description | Proximal symphalangism is a condition characterized by variable fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints. |
| Category | Congenital malformation |
| Network | nt06507(H00484) TGFB signaling |
| Gene | (SYNS1) NOG [HSA:9241] [KO:K04658] (SYNS2) GDF5 [HSA:8200] [KO:K04664] (SYNS3) FGF9 [HSA:2254] [KO:K04358] (SYNS4) GDF6 [HSA:392255] [KO:K20012] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LB90.Y ICD-10: Q78.8 MeSH: C536943 C537380 C567839 OMIM: 186500 610017 612961 617898 |
| Reference | PMID:7428777 AUTHORS Pedersen JC, Fryns JP, Carpentier G, Heremans G, Van den Berghe H TITLE Multiple synostosis syndrome. JOURNAL Eur J Pediatr 134:273-5 (1980) DOI:10.1007/BF00441486 PMID:10080184 (SYNS1) AUTHORS Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML TITLE Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. JOURNAL Nat Genet 21:302-4 (1999) DOI:10.1038/6821 PMID:16532400 (SYNS2) AUTHORS Dawson K, Seeman P, Sebald E, King L, Edwards M, Williams J 3rd, Mundlos S, Krakow D TITLE GDF5 is a second locus for multiple-synostosis syndrome. JOURNAL Am J Hum Genet 78:708-12 (2006) DOI:10.1086/503204 PMID:19589401 (SYNS3) AUTHORS Wu XL, Gu MM, Huang L, Liu XS, Zhang HX, Ding XY, Xu JQ, Cui B, Wang L, Lu SY, Chen XY, Zhang HG, Huang W, Yuan WT, Yang JM, Gu Q, Fei J, Chen Z, Yuan ZM, Wang ZG TITLE Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. JOURNAL Am J Hum Genet 85:53-63 (2009) DOI:10.1016/j.ajhg.2009.06.007 PMID:26643732 (SYNS4) AUTHORS Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y TITLE A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. JOURNAL J Bone Miner Res 31:882-9 (2016) DOI:10.1002/jbmr.2761 |