KEGG DISEASE: Robinow syndrome

DISEASE: Robinow syndrome

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 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
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H00485  Robinow syndrome

Pathway

hsa04310

Wnt signaling pathway

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]

Other DBs

ICD-11:

LD24.A

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

Reference

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

Reference

PMID:20301418 (RRS1)

Authors

Bacino C

Title

ROR2-Related Robinow Syndrome

Journal

GeneReviews (1993)

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

Reference

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

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