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Robinow syndrome(DRS1)

MedGen UID:
78535
•Concept ID:
C0265205
•
Disease or Syndrome
Synonym: DRS1
SNOMED CT: Robinow syndrome (76520005); Fetal face syndrome (76520005); Acral dysostosis with facial and genital abnormalities (76520005); Robinow Silverman Smith syndrome (76520005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019978
OMIM®: 180700
OMIM® Phenotypic series: PS268310
Orphanet: ORPHA97360

Definition

A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRobinow syndrome
Follow this link to review classifications for Robinow syndrome in Orphanet.

Professional guidelines

PubMed

Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
Shayota BJ, Zhang C, Shypailo RJ, Mazzeu JF, Carvalho CMB, Sutton VR
Am J Med Genet A 2020 Nov;182(11):2632-2640. Epub 2020 Sep 5 doi: 10.1002/ajmg.a.61843. PMID: 32888393

Recent clinical studies

Etiology

Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
Schwartz DD, Fein RH, Carvalho CMB, Sutton VR, Mazzeu JF, Axelrad ME
Am J Med Genet A 2021 Dec;185(12):3576-3583. Epub 2020 Sep 21 doi: 10.1002/ajmg.a.61854. PMID: 32954672
Decompressive Cranial Vault Remodeling in Osteosclerotic Robinow Syndrome.
Herman PI, Marji FP, Anstadt EE, Dvoracek LA, Goldstein JA, Pollack IF, Losee JE
Cleft Palate Craniofac J 2021 Jan;58(1):126-130. Epub 2020 Aug 6 doi: 10.1177/1055665620946573. PMID: 32757781
Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
Shayota BJ, Zhang C, Shypailo RJ, Mazzeu JF, Carvalho CMB, Sutton VR
Am J Med Genet A 2020 Nov;182(11):2632-2640. Epub 2020 Sep 5 doi: 10.1002/ajmg.a.61843. PMID: 32888393
Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article.
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
Identification of an association between Robinow syndrome and moyamoya.
Qaiser R, Scott RM, Smith ER
Pediatr Neurosurg 2009;45(1):69-72. Epub 2009 Mar 4 doi: 10.1159/000204907. PMID: 19258733

Diagnosis

Extremity anomalies associated with Robinow syndrome.
Abu-Ghname A, Trost J, Davis MJ, Sutton VR, Zhang C, Guillen DE, Carvalho CMB, Maricevich RS
Am J Med Genet A 2021 Dec;185(12):3584-3592. Epub 2020 Sep 25 doi: 10.1002/ajmg.a.61884. PMID: 32974972
Main genetic entities associated with supernumerary teeth.
Cammarata-Scalisi F, Avendaño A, Callea M
Arch Argent Pediatr 2018 Dec 1;116(6):437-444. doi: 10.5546/aap.2018.eng.437. PMID: 30457727
Syndromes with supernumerary teeth.
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
Robinow syndrome.
Hosalkar HS, Gerardi J, Shaw BA
J Postgrad Med 2002 Jan-Mar;48(1):50-1. PMID: 12082331
Robinow syndrome.
Patton MA, Afzal AR
J Med Genet 2002 May;39(5):305-10. doi: 10.1136/jmg.39.5.305. PMID: 12011143Free PMC Article

Therapy

Chondrocyte Polarity During Endochondral Ossification Requires Protein-Protein Interactions Between Prickle1 and Dishevelled2/3.
Wan Y, Szabo-Rogers HL
J Bone Miner Res 2021 Dec;36(12):2399-2412. Epub 2021 Sep 28 doi: 10.1002/jbmr.4428. PMID: 34423861
Robinow syndrome skeletal phenotypes caused by the WNT5AC83S variant are due to dominant interference with chondrogenesis.
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
Anaesthetic implications of Robinow syndrome.
Lirk P, Rieder J, Schuerholz A, Keller C
Paediatr Anaesth 2003 Oct;13(8):725-7. doi: 10.1046/j.1460-9592.2003.01123.x. PMID: 14535914
Robinow syndrome with growth hormone deficiency: treatment with growth hormone.
Castells S, Chakurkar A, Qazi Q, Bastian W
J Pediatr Endocrinol Metab 1999 Jul-Aug;12(4):565-71. doi: 10.1515/jpem.1999.12.4.565. PMID: 10417975
A case of Robinow syndrome accompanied by partial growth hormone insufficiency treated with growth hormone.
Kawai M, Yorifuji T, Yamanaka C, Sasaki H, Momoi T, Furusho K
Horm Res 1997;48(1):41-3. doi: 10.1159/000185369. PMID: 9195209

Prognosis

A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.
Hu R, Qiu Y, Li Y, Li J
Mol Genet Genomic Med 2022 Mar;10(3):e1886. Epub 2022 Feb 9 doi: 10.1002/mgg3.1886. PMID: 35137569Free PMC Article
Robinow syndrome: a diagnosis at the fingertips.
Murali CN, Keena B, Zackai EH
Clin Dysmorphol 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230. PMID: 29864040Free 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
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
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
Prenatal diagnosis of Robinow syndrome: a case report.
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

Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. PMID: 38884729
FZD2 regulates limb development by mediating β-catenin-dependent and -independent Wnt signaling pathways.
Zhu X, Xu M, Leu NA, Morrisey EE, Millar SE
Dis Model Mech 2023 Mar 1;16(3) Epub 2023 Mar 24 doi: 10.1242/dmm.049876. PMID: 36867021Free PMC Article
A novel frameshift mutation of DVL1-induced Robinow syndrome: A case report and literature review.
Hu R, Qiu Y, Li Y, Li J
Mol Genet Genomic Med 2022 Mar;10(3):e1886. Epub 2022 Feb 9 doi: 10.1002/mgg3.1886. PMID: 35137569Free PMC Article
Clinical and molecular characterization of four patients with Robinow syndrome from different families.
Rai A, Patil SJ, Srivastava P, Gaurishankar K, Phadke SR
Am J Med Genet A 2021 Apr;185(4):1105-1112. Epub 2021 Jan 26 doi: 10.1002/ajmg.a.62082. PMID: 33496066
Craniofacial phenotypes associated with Robinow syndrome.
Conlon CJ, Abu-Ghname A, Raghuram AC, Davis MJ, Guillen DE, Sutton VR, Carvalho CMB, Maricevich RS
Am J Med Genet A 2021 Dec;185(12):3606-3612. Epub 2020 Nov 25 doi: 10.1002/ajmg.a.61986. PMID: 33237614

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