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Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly

MedGen UID:
462960
•Concept ID:
C3151610
•
Disease or Syndrome
Synonym: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WITH BRACHY-SYN-POLYDACTYLY
 
OMIM®: 268310; 602337

Recent clinical studies

Diagnosis

Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.
Yang K, Zhu J, Tan Y, Sun X, Zhao H, Tang G, Zhang D, Qi H
J Clin Lab Anal 2020 Feb;34(2):e23074. Epub 2019 Oct 16 doi: 10.1002/jcla.23074. PMID: 31617258Free PMC Article
Identification of novel ROR2 gene mutations in Indian children with Robinow syndrome.
Tamhankar PM, Vasudevan L, Kondurkar S, Yashaswini K, Agarwalla SK, Nair M, Ramkumar TV, Chaubal N, Chennuri VS
J Clin Res Pediatr Endocrinol 2014;6(2):79-83. doi: 10.4274/Jcrpe.1233. PMID: 24932600Free PMC Article
Craniofacial and intraoral phenotype of Robinow syndrome forms.
Beiraghi S, Leon-Salazar V, Larson BE, John MT, Cunningham ML, Petryk A, Lohr JL
Clin Genet 2011 Jul;80(1):15-24. Epub 2011 May 16 doi: 10.1111/j.1399-0004.2011.01683.x. PMID: 21496006

Prognosis

Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.
Yang K, Zhu J, Tan Y, Sun X, Zhao H, Tang G, Zhang D, Qi H
J Clin Lab Anal 2020 Feb;34(2):e23074. Epub 2019 Oct 16 doi: 10.1002/jcla.23074. PMID: 31617258Free PMC Article
Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novel ROR2 gene mutations.
Aglan M, Amr K, Ismail S, Ashour A, Otaify GA, Mehrez MA, Aboul-Ezz EH, El-Ruby M, Mazen I, Abdel-Hamid MS, Temtamy SA
Am J Med Genet A 2015 Dec;167A(12):3054-61. Epub 2015 Aug 18 doi: 10.1002/ajmg.a.37287. PMID: 26284319

Clinical prediction guides

Whole-exome sequencing identified compound heterozygous variants in ROR2 gene in a fetus with Robinow syndrome.
Yang K, Zhu J, Tan Y, Sun X, Zhao H, Tang G, Zhang D, Qi H
J Clin Lab Anal 2020 Feb;34(2):e23074. Epub 2019 Oct 16 doi: 10.1002/jcla.23074. PMID: 31617258Free PMC Article

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