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SC phocomelia syndrome

MedGen UID:
984040
•Concept ID:
CN300935
•
Disease or Syndrome
Synonym: Hypomelia hypotrichosis facial hemangioma syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Early prenatal diagnosis of skeletal anomalies.
Khalil A, Pajkrt E, Chitty LS
Prenat Diagn 2011 Jan;31(1):115-24. doi: 10.1002/pd.2676. PMID: 21210484
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
Schüle B, Oviedo A, Johnston K, Pai S, Francke U
Am J Hum Genet 2005 Dec;77(6):1117-28. Epub 2005 Oct 31 doi: 10.1086/498695. PMID: 16380922Free PMC Article
Prenatal diagnosis of renal anomalies.
Kaffe S, Rose JS, Godmilow L, Walker BA, Kerenyi T, Beratis N, Reyes P, Hirschhorn K
Am J Med Genet 1977;1(2):241-51. doi: 10.1002/ajmg.1320010210. PMID: 610432

Recent clinical studies

Etiology

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. doi: 10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x. PMID: 9934984

Diagnosis

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.
Schneeberger PE, Nayak SS, Fuchs S, Kutsche K, Girisha KM
Am J Med Genet A 2020 Nov;182(11):2793-2796. Epub 2020 Aug 11 doi: 10.1002/ajmg.a.61826. PMID: 32783269
Expanding the mutation and clinical spectrum of Roberts syndrome.
Afifi HH, Abdel-Salam GM, Eid MM, Tosson AM, Shousha WG, Abdel Azeem AA, Farag MK, Mehrez MI, Gaber KR
Congenit Anom (Kyoto) 2016 Jul;56(4):154-62. doi: 10.1111/cga.12151. PMID: 26710928
Roberts-SC phocomelia syndrome.
Maheshwari A, Kumar P, Dutta S, Narang A
Indian J Pediatr 2001 Jun;68(6):557-9. doi: 10.1007/BF02723253. PMID: 11450388
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.
Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH
Am J Med Genet 1989 Mar;32(3):390-4. doi: 10.1002/ajmg.1320320325. PMID: 2658590
The SC phocomelia and the Roberts syndrome: nosologic aspects.
Herrmann J, Opitz JM
Eur J Pediatr 1977 Jun 1;125(2):117-34. doi: 10.1007/BF00489985. PMID: 872834

Prognosis

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
Eur J Orthod 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. PMID: 32255174
Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.
Sezer A, Kayhan G, Zenker M, Percin EF
Eur J Med Genet 2019 Dec;62(12):103608. Epub 2018 Dec 24 doi: 10.1016/j.ejmg.2018.12.013. PMID: 30590172
Tetra-amelia with lung hypoplasia and facial clefts, Roberts-SC syndrome: report of two cases.
Ragavan M, Reddy S, Kumar C
Pediatr Surg Int 2010 Oct;26(10):1049-52. doi: 10.1007/s00383-010-2656-8. PMID: 20625748
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. doi: 10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x. PMID: 9934984
Tri-amelia and phocomelia with multiple malformations resembling Roberts syndrome in a fetus: is it a variant or a new syndrome?
Song SY, Chi JG
Clin Genet 1996 Dec;50(6):502-4. doi: 10.1111/j.1399-0004.1996.tb02722.x. PMID: 9147883

Clinical prediction guides

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.
Kantaputra PN, Dejkhamron P, Intachai W, Ngamphiw C, Kawasaki K, Ohazama A, Krisanaprakornkit S, Olsen B, Tongsima S, Ketudat Cairns JR
Eur J Orthod 2021 Jan 29;43(1):45-50. doi: 10.1093/ejo/cjaa023. PMID: 32255174
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH
Am J Med Genet 1999 Jan 15;82(2):170-6. doi: 10.1002/(sici)1096-8628(19990115)82:2<170::aid-ajmg14>3.0.co;2-x. PMID: 9934984
Roberts-SC phocomelia syndrome with exencephaly.
Verloes A, Herens C, Van Maldergem L, Retz MC, Dodinval P
Ann Genet 1989;32(3):169-70. PMID: 2817778
Prenatal detection of Roberts-SC phocomelia syndrome: report of 2 sibs with characteristic manifestations.
Robins DB, Ladda RL, Thieme GA, Boal DK, Emanuel BS, Zackai EH
Am J Med Genet 1989 Mar;32(3):390-4. doi: 10.1002/ajmg.1320320325. PMID: 2658590
The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.
Qazi QH, Kassner EG, Masakawa A, Madahar C, Choi SJ
Am J Med Genet 1979;4(3):231-8. doi: 10.1002/ajmg.1320040305. PMID: 517578

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