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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia of the radius

Phenotypic abnormality
- Abnormality of limbs
  - Abnormality of the upper limb
    - Abnormal upper limb bone morphology
      - Abnormal forearm bone morphology
        Aplasia/hypoplasia involving forearm bones
        Aplasia/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

See all (1)

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: 25344219 Free 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

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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

See all (1)

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Aplasia/Hypoplasia of the radius

Definition

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Diagnosis

Clinical prediction guides

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Genetic Testing Registry

Clinical resources

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