KEGG   DISEASE: Robinow syndromeHelp
Entry
H00485                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00485  Robinow syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H00485  Robinow syndrome
BRITE hierarchy
Pathway
hsa04310 Wnt signaling pathway   
Gene
(RRS) ROR2 [HSA:4920] [KO:K05123]
(DRS1) WNT5A [HSA:7474] [KO:K00444]
(DRS2) DVL1 [HSA:1855] [KO:K02353]
(DRS3) DVL3 [HSA:1857] [KO:K02353]
Other DBs
ICD-11: LD24.A
ICD-10: Q87.1
MeSH: C562492 C535863
OMIM: 268310 180700 616331 616894
Reference
  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
Reference
  Authors
Patton MA, Afzal AR
  Title
Robinow syndrome.
  Journal
J Med Genet 39:305-10 (2002)
DOI:10.1136/jmg.39.5.305
Reference
  Authors
Bacino C
  Title
ROR2-Related Robinow Syndrome
  Journal
GeneReviews (1993)
Reference
  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
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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