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Autosomal dominant Robinow syndrome

MedGen UID:
1675001
Concept ID:
C5200540
Disease or Syndrome
Synonym: Robinow Syndrome, Autosomal Dominant
SNOMED CT: Autosomal dominant Robinow syndrome (890233009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0008389
Orphanet: ORPHA3107

Definition

The more common type of Robinow syndrome characterised by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAutosomal dominant Robinow syndrome

Professional guidelines

PubMed

Kaissi AA, Kenis V, Shboul M, Grill F, Ganger R, Kircher SG
J Investig Med High Impact Case Rep 2020 Jan-Dec;8:2324709620911771. doi: 10.1177/2324709620911771. PMID: 32172608Free PMC Article

Recent clinical studies

Diagnosis

Danyel M, Kortüm F, Dathe K, Kutsche K, Horn D
Am J Med Genet A 2018 Apr;176(4):992-996. doi: 10.1002/ajmg.a.38635. PMID: 29575616
Lubinsky M, Kantaputra PN
Am J Med Genet A 2016 Oct;170(10):2611-6. Epub 2016 Jun 2 doi: 10.1002/ajmg.a.37763. PMID: 27250821
White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB
Am J Hum Genet 2016 Mar 3;98(3):553-561. Epub 2016 Feb 25 doi: 10.1016/j.ajhg.2016.01.005. PMID: 26924530Free PMC Article
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; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM
Am J Hum Genet 2015 Apr 2;96(4):612-22. Epub 2015 Mar 26 doi: 10.1016/j.ajhg.2015.02.015. PMID: 25817016Free PMC Article
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
Dev Dyn 2010 Jan;239(1):327-37. doi: 10.1002/dvdy.22156. PMID: 19918918Free PMC Article

Therapy

Gignac SJ, Hosseini-Farahabadi S, Akazawa T, Schuck NJ, Fu K, Richman JM
Hum Mol Genet 2019 Jul 15;28(14):2395-2414. doi: 10.1093/hmg/ddz071. PMID: 31032853Free PMC Article

Prognosis

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; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM
Am J Hum Genet 2015 Apr 2;96(4):612-22. Epub 2015 Mar 26 doi: 10.1016/j.ajhg.2015.02.015. PMID: 25817016Free PMC Article
Castro S, Peraza E, Barraza A, Zapata M
J Clin Ultrasound 2014 Jun;42(5):297-300. Epub 2013 Oct 22 doi: 10.1002/jcu.22103. PMID: 24151023

Clinical prediction guides

Danyel M, Kortüm F, Dathe K, Kutsche K, Horn D
Am J Med Genet A 2018 Apr;176(4):992-996. doi: 10.1002/ajmg.a.38635. PMID: 29575616
White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB
Am J Hum Genet 2016 Mar 3;98(3):553-561. Epub 2016 Feb 25 doi: 10.1016/j.ajhg.2016.01.005. PMID: 26924530Free PMC Article
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; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM
Am J Hum Genet 2015 Apr 2;96(4):612-22. Epub 2015 Mar 26 doi: 10.1016/j.ajhg.2015.02.015. PMID: 25817016Free PMC Article

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