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Aplasia/Hypoplasia of the radius

MedGen UID:
411844
•Concept ID:
C2749463
•
Finding
Synonym: Radial aplasia/hypoplasia
 
HPO: HP:0006501

Definition

A small/hypoplastic or absent/aplastic radius. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia/Hypoplasia of the radius

Conditions with this feature

Rapadilino syndrome
MedGen UID:
336602
•Concept ID:
C1849453
•
Disease or Syndrome
The RAPADILINO syndrome is an autosomal recessive disorder characterized by short stature, radial ray defects and other malformations, and infantile diarrhea. The acronym is derived from hallmark features: RA for radial; PA for both absent/hypoplastic patellas and cleft/highly arched palate; DI for diarrhea, as well as dislocated joints; LI for little size and limb malformations; and NO for long, slender nose and normal intelligence. RAPADILINO belongs to the Finnish disease heritage (Kaariainen et al., 1989; Siitonen et al., 2003).
See: Condition Record
Skeletal defects, genital hypoplasia, and intellectual disability
MedGen UID:
382795
•Concept ID:
C2676231
•
Disease or Syndrome
See: Condition Record
Rapadilino syndrome
Skeletal defects, genital hypoplasia, and intellectual disability

Professional guidelines

PubMed

The treatment of radial club hand. Absent radius, aplasia of the radius, hypoplasia of the radius, radial paraxial hemimelia.
Lamb DW
Hand 1972 Feb;4(1):22-30. doi: 10.1016/0072-968x(72)90004-6. PMID: 5061371

Recent clinical studies

Diagnosis

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
Holt Oram syndrome: a registry-based study in Europe.
Barisic I, Boban L, Greenlees R, Garne E, Wellesley D, Calzolari E, Addor MC, Arriola L, Bergman JE, Braz P, Budd JL, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, McDonnell B, Nelen V, Pierini A, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Tucker D, Verellen-Dumoulin C, Dolk H
Orphanet J Rare Dis 2014 Oct 25;9:156. doi: 10.1186/s13023-014-0156-y. PMID: 25344219Free PMC Article
Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.
Houeijeh A, Andrieux J, Saugier-Veber P, David A, Goldenberg A, Bonneau D, Fouassier M, Journel H, Martinovic J, Escande F, Devisme L, Bisiaux S, Chaffiotte C, Baux M, Kerckaert JP, Holder-Espinasse M, Manouvrier-Hanu S
Eur J Med Genet 2011 Sep-Oct;54(5):e471-7. Epub 2011 May 13 doi: 10.1016/j.ejmg.2011.05.001. PMID: 21635976
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.
Kääriäinen H, Ryöppy S, Norio R
Am J Med Genet 1989 Jul;33(3):346-51. doi: 10.1002/ajmg.1320330312. PMID: 2801769

Clinical prediction guides

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588

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