U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.
See: Feature record | Search on this feature
Absent radius
MedGen UID:
235613
•Concept ID:
C1405984
•
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Show allHide all

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 Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
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
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
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
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
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

Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
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
Human facial dysostoses.
Wieczorek D
Clin Genet 2013 Jun;83(6):499-510. Epub 2013 Apr 8 doi: 10.1111/cge.12123. PMID: 23565775
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
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
Inherited causes of exocrine pancreatic dysfunction.
Durie PR
Can J Gastroenterol 1997 Mar;11(2):145-52. doi: 10.1155/1997/137618. PMID: 9113814
Mass hysteria: two syndromes?
Wessely S
Psychol Med 1987 Feb;17(1):109-20. doi: 10.1017/s0033291700013027. PMID: 3575566

Diagnosis

Diagnosis and management of Abernethy syndrome.
Castro Rodríguez J, Rodríguez Perálvarez ML, Montero-Álvarez JL
Rev Esp Enferm Dig 2024 Jan;116(1):1-6. doi: 10.17235/reed.2023.9781/2023. PMID: 37522317
Axenfeld-Rieger syndrome: more than meets the eye.
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
Thrombocytopenia-absent radius syndrome.
Toriello HV
Semin Thromb Hemost 2011 Sep;37(6):707-12. Epub 2011 Nov 18 doi: 10.1055/s-0031-1291381. PMID: 22102274
Thrombocytopenia absent radius syndrome.
de Ybarrondo L, Barratt MS
Pediatr Rev 2011 Sep;32(9):399-400; discussion 400. doi: 10.1542/pir.32-9-399. PMID: 21885665
Yunis Varon syndrome.
Kulkarni ML, Vani HN, Nagendra K, Mahesh TK, Kumar A, Haneef S, Mohammed Z, Kulkarni PM
Indian J Pediatr 2006 Apr;73(4):353-5. doi: 10.1007/BF02825832. PMID: 16816498

Therapy

Nucleotide Excision Repair: From Molecular Defects to Neurological Abnormalities.
Krasikova Y, Rechkunova N, Lavrik O
Int J Mol Sci 2021 Jun 9;22(12) doi: 10.3390/ijms22126220. PMID: 34207557Free PMC Article
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Clinical Management of Congenital Hypogonadotropic Hypogonadism.
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
Septo-Optic Dysplasia: A Case Study.
Musgrove JM, Riley C
Neonatal Netw 2016;35(1):13-8. doi: 10.1891/0730-0832.35.1.13. PMID: 26842535
Glanzmann thrombasthenia.
Nurden AT
Orphanet J Rare Dis 2006 Apr 6;1:10. doi: 10.1186/1750-1172-1-10. PMID: 16722529Free PMC Article

Prognosis

Omphalocele-What should we tell the prospective parents?
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
The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management.
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
Electrophysiology in Fisher syndrome.
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
Branchio-oto-renal syndrome.
Rodríguez Soriano J
J Nephrol 2003 Jul-Aug;16(4):603-5. PMID: 14696767
Inherited causes of exocrine pancreatic dysfunction.
Durie PR
Can J Gastroenterol 1997 Mar;11(2):145-52. doi: 10.1155/1997/137618. PMID: 9113814

Clinical prediction guides

The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome.
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
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
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
Congenital Cranial Dysinnervation Disorders: A Literature Review.
Fels R
Am Orthopt J 2017 Jan;67(1):89-92. doi: 10.3368/aoj.67.1.89. PMID: 28904220
Adult liver transplantation in the congenital absence of inferior vena cava.
Angelico R, Stonelake S, Perera DS, Mirza DF, Russell S, Muiesan P, Perera MT
Int J Surg 2015 Oct;22:32-7. Epub 2015 Aug 13 doi: 10.1016/j.ijsu.2015.08.018. PMID: 26278662
Globozoospermia revisited.
Dam AH, Feenstra I, Westphal JR, Ramos L, van Golde RJ, Kremer JA
Hum Reprod Update 2007 Jan-Feb;13(1):63-75. Epub 2006 Sep 28 doi: 10.1093/humupd/dml047. PMID: 17008355

Recent systematic reviews

Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
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
Measuring the global burden of chikungunya and Zika viruses: A systematic review.
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
Tracheal anomalies associated with Down syndrome: A systematic review.
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
Cryptorchidism, gonocyte development, and the risks of germ cell malignancy and infertility: A systematic review.
Loebenstein M, Thorup J, Cortes D, Clasen-Linde E, Hutson JM, Li R
J Pediatr Surg 2020 Jul;55(7):1201-1210. Epub 2019 Jul 5 doi: 10.1016/j.jpedsurg.2019.06.023. PMID: 31327540
Systematic review and meta-analysis of performance of second-trimester nasal bone assessment in detection of fetuses with Down syndrome.
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...