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SC phocomelia syndrome

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

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
A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound.
Kennelly MM, Moran P
Prenat Diagn 2007 Aug;27(8):730-7. doi: 10.1002/pd.1770. PMID: 17533626
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

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

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 sonographic features and management of a fetus with Roberts-SC phocomelia syndrome (pseudothalidomide syndrome) and pulmonary hypoplasia.
Sherer DM, Shah YG, Klionsky N, Woods JR Jr
Am J Perinatol 1991 Jul;8(4):259-62. doi: 10.1055/s-2007-999392. PMID: 1741870
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
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID
Am J Hum Genet 2007 Mar;80(3):485-94. Epub 2007 Jan 17 doi: 10.1086/511888. PMID: 17273969Free PMC Article
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
Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics?
Tomkins DJ, Sisken JE
Am J Hum Genet 1984 Nov;36(6):1332-40. PMID: 6517054Free PMC Article

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
Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.
Deardorff MA, Kaur M, Yaeger D, Rampuria A, Korolev S, Pie J, Gil-Rodríguez C, Arnedo M, Loeys B, Kline AD, Wilson M, Lillquist K, Siu V, Ramos FJ, Musio A, Jackson LS, Dorsett D, Krantz ID
Am J Hum Genet 2007 Mar;80(3):485-94. Epub 2007 Jan 17 doi: 10.1086/511888. PMID: 17273969Free PMC Article
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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