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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.
 
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

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

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
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
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
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
Qaiser R, Scott RM, Smith ER
Pediatr Neurosurg 2009;45(1):69-72. Epub 2009 Mar 4 doi: 10.1159/000204907. PMID: 19258733

Diagnosis

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
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
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
Hosalkar HS, Gerardi J, Shaw BA
J Postgrad Med 2002 Jan-Mar;48(1):50-1. PMID: 12082331
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

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
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
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
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
Lee PA, Danish RK, Mazur T, Migeon CJ
Johns Hopkins Med J 1980 Nov;147(5):175-81. PMID: 7441936

Prognosis

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
Murali CN, Keena B, Zackai EH
Clin Dysmorphol 2018 Oct;27(4):135-137. doi: 10.1097/MCD.0000000000000230. PMID: 29864040Free PMC Article
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
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

Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. PMID: 38884729
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
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
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
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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