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Absent radius-anogenital anomalies syndrome

MedGen UID:
333312
Concept ID:
C1839410
Disease or Syndrome
Synonyms: RADIAL APLASIA AND ANOGENITAL ANOMALIES; Radial aplasia, X-linked; Radius absent anogenital anomalies
 
Monarch Initiative: MONDO:0010718
OMIM®: 312190
Orphanet: ORPHA3016

Definition

A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993. [from ORDO]

Clinical features

From HPO
Penile hypospadias
MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
Location of the urethral opening on the inferior aspect of the penis.
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent radius-anogenital anomalies syndrome
Follow this link to review classifications for Absent radius-anogenital anomalies syndrome in Orphanet.

Professional guidelines

PubMed

Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Young J, Xu C, Papadakis GE, Acierno JS, Maione L, Hietamäki J, Raivio T, Pitteloud N
Endocr Rev 2019 Apr 1;40(2):669-710. doi: 10.1210/er.2018-00116. PMID: 30698671
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505

Recent clinical studies

Etiology

Recker F, Weber EC, Strizek B, Geipel A, Berg C, Gembruch U
Arch Gynecol Obstet 2022 Nov;306(5):1449-1454. Epub 2022 Jan 18 doi: 10.1007/s00404-022-06397-4. PMID: 35043273Free PMC Article
Society for Maternal-Fetal Medicine (SMFM). Electronic address: pubs@smfm.org, Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group
Eur J Hum Genet 2012 Jul;20(7):754-61. Epub 2012 Feb 8 doi: 10.1038/ejhg.2012.6. PMID: 22317977Free PMC Article
Hughes GR, Whaley K
Br Med J 1972 Dec 2;4(5839):533-6. doi: 10.1136/bmj.4.5839.533. PMID: 4566018Free PMC Article

Diagnosis

Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV
J Med Genet 2023 Apr;60(4):368-379. Epub 2022 Jul 26 doi: 10.1136/jmg-2022-108646. PMID: 35882526Free PMC Article
Samuels ME, Campeau PM
Eur J Hum Genet 2019 May;27(5):671-680. Epub 2019 Jan 21 doi: 10.1038/s41431-018-0329-6. PMID: 30664715Free PMC Article
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Toriello HV
Semin Thromb Hemost 2011 Sep;37(6):707-12. Epub 2011 Nov 18 doi: 10.1055/s-0031-1291381. PMID: 22102274
de Ybarrondo L, Barratt MS
Pediatr Rev 2011 Sep;32(9):399-400; discussion 400. doi: 10.1542/pir.32-9-399. PMID: 21885665

Therapy

Recker F, Weber EC, Strizek B, Geipel A, Berg C, Gembruch U
Arch Gynecol Obstet 2022 Nov;306(5):1449-1454. Epub 2022 Jan 18 doi: 10.1007/s00404-022-06397-4. PMID: 35043273Free PMC Article
Young J, Xu C, Papadakis GE, Acierno JS, Maione L, Hietamäki J, Raivio T, Pitteloud N
Endocr Rev 2019 Apr 1;40(2):669-710. doi: 10.1210/er.2018-00116. PMID: 30698671
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article
Kramer L, Hörl WH
Semin Nephrol 2002 Jul;22(4):290-301. PMID: 12118394
Mansfield MJ, Emans SJ
J Reprod Med 1984 Jun;29(6):399-410. PMID: 6379175

Prognosis

Adams AD, Stover S, Rac MW
Prenat Diagn 2021 Mar;41(4):486-496. Epub 2021 Feb 4 doi: 10.1002/pd.5886. PMID: 33540475
Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, Aghamohammadi A
Clin Immunol 2019 Jan;198:19-30. Epub 2018 Nov 13 doi: 10.1016/j.clim.2018.11.007. PMID: 30439505
Zaeem Z, Siddiqi ZA, Zochodne DW
Clin Auton Res 2019 Jun;29(3):289-299. Epub 2018 Jul 17 doi: 10.1007/s10286-018-0542-y. PMID: 30019292
Kuwabara S, Sekiguchi Y, Misawa S
Clin Neurophysiol 2017 Jan;128(1):215-219. Epub 2016 Nov 20 doi: 10.1016/j.clinph.2016.11.009. PMID: 27923188
Rodríguez Soriano J
J Nephrol 2003 Jul-Aug;16(4):603-5. PMID: 14696767

Clinical prediction guides

Nielsen-Dandoroff E, Ruegg MSG, Bicknell LS
Eur J Hum Genet 2023 Aug;31(8):859-868. Epub 2023 Apr 14 doi: 10.1038/s41431-023-01359-z. PMID: 37059840Free PMC Article
Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D
Int J Mol Sci 2022 Oct 19;23(20) doi: 10.3390/ijms232012564. PMID: 36293418Free PMC Article
Recker F, Weber EC, Strizek B, Geipel A, Berg C, Gembruch U
Arch Gynecol Obstet 2022 Nov;306(5):1449-1454. Epub 2022 Jan 18 doi: 10.1007/s00404-022-06397-4. PMID: 35043273Free PMC Article
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article

Recent systematic reviews

Miroševič Š, Khandelwal S, Sušjan P, Žakelj N, Gosar D, Forstnerič V, Lainšček D, Jerala R, Osredkar D
Int J Mol Sci 2022 Oct 19;23(20) doi: 10.3390/ijms232012564. PMID: 36293418Free PMC Article
Puntasecca CJ, King CH, LaBeaud AD
PLoS Negl Trop Dis 2021 Mar;15(3):e0009055. Epub 2021 Mar 4 doi: 10.1371/journal.pntd.0009055. PMID: 33661908Free PMC Article
Fockens MM, Hölscher M, Limpens J, Dikkers FG
Pediatr Pulmonol 2021 May;56(5):814-822. Epub 2021 Jan 12 doi: 10.1002/ppul.25203. PMID: 33434377Free PMC Article
Moreno-Cid M, Rubio-Lorente A, Rodríguez MJ, Bueno-Pacheco G, Tenías JM, Román-Ortiz C, Arias Á
Ultrasound Obstet Gynecol 2014 Mar;43(3):247-53. doi: 10.1002/uog.13228. PMID: 24151178
Gosemann JH, Puri P
Pediatr Surg Int 2011 Oct;27(10):1041-6. doi: 10.1007/s00383-011-2954-9. PMID: 21792650

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