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Radial aplasia

MedGen UID:
374011
•Concept ID:
C1838608
•
Disease or Syndrome

Professional guidelines

PubMed

Prenatal diagnosis of a case with anencephaly-omphalocele-unilateral absent radial ray.
Ceylaner S, Ceylaner G, Altun M, Coşkun A, Danisman N
Genet Couns 2009;20(2):189-93. PMID: 19650417
Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.
Mehollin-Ray AR, Kozinetz CA, Schlesinger AE, Guillerman RP, Wang LL
AJR Am J Roentgenol 2008 Aug;191(2):W62-6. doi: 10.2214/AJR.07.3619. PMID: 18647888
Prenatal diagnosis of thrombocytopenia-absent radius syndrome.
Boute O, Depret-Mosser S, Vinatier D, Manouvrier S, Martin de Lassale E, Farriaux JP, Monnier JC
Fetal Diagn Ther 1996 May-Jun;11(3):224-30. doi: 10.1159/000264307. PMID: 8739592

Recent clinical studies

Etiology

Nonfamilial VACTERL-H Syndrome in a Dizygotic Twin: Prenatal Ultrasound and Postnatal 3D CT Findings.
Hong SY, Kim SJ, Park MH, Lee KA
Medicina (Kaunas) 2023 Jul 28;59(8) doi: 10.3390/medicina59081387. PMID: 37629676Free PMC Article
Prevalence and risk factors of radial ray deficiencies: A population-based case-control study.
Syvänen J, Raitio A, Helenius I, Löyttyniemi E, Lahesmaa-Korpinen AM, Gissler M, Nietosvaara Y
Am J Med Genet A 2021 Mar;185(3):759-765. Epub 2020 Dec 23 doi: 10.1002/ajmg.a.62033. PMID: 33369153
Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.
Lam WL, Oh JDH, Johnson EJ, Pertinez SP, Stephens C, Davey MG
J Hand Surg Eur Vol 2019 Jan;44(1):43-50. Epub 2018 Mar 27 doi: 10.1177/1753193418762959. PMID: 29587601
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.
Manukjan G, Bösing H, Schmugge M, Strauß G, Schulze H
Br J Haematol 2017 Nov;179(4):606-617. Epub 2017 Aug 31 doi: 10.1111/bjh.14913. PMID: 28857120
Pregnancy and the risk of teratogenicity.
Lindhout D, Omtzigt JG
Epilepsia 1992;33 Suppl 4:S41-8. doi: 10.1111/j.1528-1157.1992.tb06226.x. PMID: 1425493

Diagnosis

Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment.
Strauss G, Mott K, Klopocki E, Schulze H
Hamostaseologie 2023 Aug;43(4):252-260. Epub 2023 Aug 23 doi: 10.1055/a-2088-1801. PMID: 37611607
Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Kaneko H, Takemoto M, Murakami H, Ihara K, Kosaki R, Motegi SI, Taniguchi A, Matsuo M, Yamazaki N, Nishigori C, Takita J, Koshizaka M, Maezawa Y, Yokote K
Pediatr Int 2022 Jan;64(1):e15120. doi: 10.1111/ped.15120. PMID: 35616152
Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.
Manukjan G, Bösing H, Schmugge M, Strauß G, Schulze H
Br J Haematol 2017 Nov;179(4):606-617. Epub 2017 Aug 31 doi: 10.1111/bjh.14913. PMID: 28857120
Nationwide survey of Baller‑Gerold syndrome in Japanese population.
Kaneko H, Izumi R, Oda H, Ohara O, Sameshima K, Ohnishi H, Fukao T, Funato M
Mol Med Rep 2017 May;15(5):3222-3224. Epub 2017 Mar 28 doi: 10.3892/mmr.2017.6408. PMID: 28358413
Inherited thrombocytopenia: Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii.
Geddis AE
Semin Hematol 2006 Jul;43(3):196-203. doi: 10.1053/j.seminhematol.2006.04.003. PMID: 16822462

Therapy

Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells.
Mo D, Zhao Y, Balajee AS
Cancer Lett 2018 Jan 28;413:1-10. Epub 2017 Nov 7 doi: 10.1016/j.canlet.2017.10.021. PMID: 29080750
Skeletal malformations associated with esophageal atresia: clinical and experimental studies.
Xia H, Migliazza L, Montedonico S, Rodriguez JI, Diez-Pardo JA, Tovar JA
J Pediatr Surg 1999 Sep;34(9):1385-92. doi: 10.1016/s0022-3468(99)90016-7. PMID: 10507434
Pregnancy and the risk of teratogenicity.
Lindhout D, Omtzigt JG
Epilepsia 1992;33 Suppl 4:S41-8. doi: 10.1111/j.1528-1157.1992.tb06226.x. PMID: 1425493

Prognosis

Prevalence and risk factors of radial ray deficiencies: A population-based case-control study.
Syvänen J, Raitio A, Helenius I, Löyttyniemi E, Lahesmaa-Korpinen AM, Gissler M, Nietosvaara Y
Am J Med Genet A 2021 Mar;185(3):759-765. Epub 2020 Dec 23 doi: 10.1002/ajmg.a.62033. PMID: 33369153
Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.
Lam WL, Oh JDH, Johnson EJ, Pertinez SP, Stephens C, Davey MG
J Hand Surg Eur Vol 2019 Jan;44(1):43-50. Epub 2018 Mar 27 doi: 10.1177/1753193418762959. PMID: 29587601
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS).
Castori M, Brancati F, Rinaldi R, Adami L, Mingarelli R, Grammatico P, Dallapiccola B
Am J Med Genet A 2006 Jul 15;140(14):1573-9. doi: 10.1002/ajmg.a.31290. PMID: 16761296
Vascular pathogenesis of limb defects. I. Radial artery anatomy in radial aplasia.
Van Allen MI, Hoyme HE, Jones KL
J Pediatr 1982 Nov;101(5):832-8. doi: 10.1016/s0022-3476(82)80342-9. PMID: 7131172
Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome.
Anyane-Yeboa K, Gunning L, Bloom AD
Clin Genet 1980 Feb;17(2):161-6. doi: 10.1111/j.1399-0004.1980.tb00126.x. PMID: 7363501

Clinical prediction guides

Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Kaneko H, Takemoto M, Murakami H, Ihara K, Kosaki R, Motegi SI, Taniguchi A, Matsuo M, Yamazaki N, Nishigori C, Takita J, Koshizaka M, Maezawa Y, Yokote K
Pediatr Int 2022 Jan;64(1):e15120. doi: 10.1111/ped.15120. PMID: 35616152
Prevalence and risk factors of radial ray deficiencies: A population-based case-control study.
Syvänen J, Raitio A, Helenius I, Löyttyniemi E, Lahesmaa-Korpinen AM, Gissler M, Nietosvaara Y
Am J Med Genet A 2021 Mar;185(3):759-765. Epub 2020 Dec 23 doi: 10.1002/ajmg.a.62033. PMID: 33369153
Experimental evidence that preaxial polydactyly and forearm radial deficiencies may share a common developmental origin.
Lam WL, Oh JDH, Johnson EJ, Pertinez SP, Stephens C, Davey MG
J Hand Surg Eur Vol 2019 Jan;44(1):43-50. Epub 2018 Mar 27 doi: 10.1177/1753193418762959. PMID: 29587601
RAPADILINO RECQL4 mutant protein lacks helicase and ATPase activity.
Croteau DL, Rossi ML, Ross J, Dawut L, Dunn C, Kulikowicz T, Bohr VA
Biochim Biophys Acta 2012 Nov;1822(11):1727-34. Epub 2012 Jul 31 doi: 10.1016/j.bbadis.2012.07.014. PMID: 22885111Free PMC Article
The Baller-Gerold syndrome.
Van Maldergem L, Verloes A, Lejeune L, Gillerot Y
J Med Genet 1992 Apr;29(4):266-8. doi: 10.1136/jmg.29.4.266. PMID: 1583650Free PMC Article

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