| H00485 | |
| H number | H00485 |
| Name | Robinow syndrome |
| Description | Robinow syndrome (RS) is a rare genetically heterogeneous condition characterized by hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Both autosomal recessive and autosomal dominant inheritance have been described. The phenotypic presentation in both types of RS overlaps; however, subtle variances in the severity of craniofacial, musculoskeletal, cardiovascular, and urogenital characteristics may be present. In general, autosomal recessive RS (RRS) patients have more severe dysmorphology than autosomal dominant RS (DRS), especially in the musculoskeletal system. |
| Category | Congenital malformation |
| Network | nt06505 WNT signaling |
| Gene | (RRS1) ROR2 [HSA:4920] [KO:K05123] (RRS2) NXN [HSA:64359] [KO:K17609] (DRS1) WNT5A [HSA:7474] [KO:K00444] (DRS2) DVL1 [HSA:1855] [KO:K02353] (DRS3) DVL3 [HSA:1857] [KO:K02353] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.A ICD-10: Q87.1 MeSH: C562492 C535863 OMIM: 268310 180700 616331 616894 618529 |
| Reference | PMID:19790289 AUTHORS Mundlos S TITLE The brachydactylies: a molecular disease family. JOURNAL Clin Genet 76:123-36 (2009) DOI:10.1111/j.1399-0004.2009.01238.x PMID:12011143 (RRS1) AUTHORS Patton MA, Afzal AR TITLE Robinow syndrome. JOURNAL J Med Genet 39:305-10 (2002) DOI:10.1136/jmg.39.5.305 PMID:20301418 (RRS1) AUTHORS Bacino C TITLE ROR2-Related Robinow Syndrome JOURNAL GeneReviews (1993) PMID:21496006 AUTHORS Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL TITLE Craniofacial and intraoral phenotype of Robinow syndrome forms. JOURNAL Clin Genet 80:15-24 (2011) DOI:10.1111/j.1399-0004.2011.01683.x PMID:17256787 AUTHORS Mazzeu JF, Pardono E, Vianna-Morgante AM, Richieri-Costa A, Ae Kim C, Brunoni D, Martelli L, de Andrade CE, Colin G, Otto PA TITLE Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. JOURNAL Am J Med Genet A 143:320-5 (2007) DOI:10.1002/ajmg.a.31592 PMID:19918918 (DRS1) AUTHORS Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, Robu ME, Schleiffarth JR, Billington CJ Jr, van Bokhoven H, Hoogeboom JM, Mazzeu JF, Petryk A, Schimmenti LA, Brunner HG, Ekker SC, Lohr JL TITLE WNT5A mutations in patients with autosomal dominant Robinow syndrome. JOURNAL Dev Dyn 239:327-37 (2010) DOI:10.1002/dvdy.22156 PMID:25817016 (DRS2) AUTHORS White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA, Lupski JR, Brunner HG, van Bon BW, Carvalho CM TITLE DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome. JOURNAL Am J Hum Genet 96:612-22 (2015) DOI:10.1016/j.ajhg.2015.02.015 PMID:26924530 (DRS3) AUTHORS White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA, van Bon BW, Sutton VR, Lupski JR, Brunner HG, Carvalho CM TITLE DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome. JOURNAL Am J Hum Genet 98:553-61 (2016) DOI:10.1016/j.ajhg.2016.01.005 PMID:29276006 (RRS1/2, DRS1/2/3) AUTHORS White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB TITLE WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. JOURNAL Am J Hum Genet 102:27-43 (2018) DOI:10.1016/j.ajhg.2017.10.002 |