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Short forearm

MedGen UID:
1632880
Concept ID:
C4551978
Anatomical Abnormality
Synonyms: Short forearms; Shortened forearm; Shortened forearms
 
HPO: HP:0005773

Definition

Underdevelopment of both forearm bones, the ulna and the radius, resulting in a shortened forearm. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort forearm

Conditions with this feature

Radial aplasia-thrombocytopenia syndrome
MedGen UID:
61235
Concept ID:
C0175703
Disease or Syndrome
Thrombocytopenia absent radius (TAR) syndrome is characterized by bilateral absence of the radii with the presence of both thumbs, and thrombocytopenia that is generally transient. Thrombocytopenia may be congenital or may develop within the first few weeks to months of life; in general, thrombocytopenic episodes decrease with age. Cow's milk allergy is common and can be associated with exacerbation of thrombocytopenia. Other anomalies of the skeleton (upper and lower limbs, ribs, and vertebrae), heart, and genitourinary system (renal anomalies and agenesis of uterus, cervix, and upper part of the vagina) can occur.

Professional guidelines

PubMed

Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B
J Med Genet 2007 May;44(5):306-13. Epub 2006 Dec 20 doi: 10.1136/jmg.2006.046581. PMID: 17182655Free PMC Article

Recent clinical studies

Etiology

Gürsoy S, Hazan F, Aykut A, Nalbantoğlu Ö, Korkmaz HA, Demir K, Özkan B, Çoğulu Ö
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):358-365. Epub 2020 Apr 16 doi: 10.4274/jcrpe.galenos.2020.2019.0001. PMID: 32295321Free PMC Article
Klein C, Ferrari V, Deroussen F, Juvet-Segarra M, Gouron R
Hand Surg Rehabil 2019 Apr;38(2):129-134. Epub 2019 Jan 11 doi: 10.1016/j.hansur.2018.12.005. PMID: 30641152
Andrade-Silva FB, Rocha JP, Carvalho A, Kojima KE, Silva JS
Injury 2019 Feb;50(2):386-391. Epub 2018 Dec 4 doi: 10.1016/j.injury.2018.12.001. PMID: 30558805
Hirschfeldova K, Florianova M, Kebrdlova V, Urbanova M, Stekrova J
J Hum Genet 2017 Feb;62(2):253-257. Epub 2016 Oct 6 doi: 10.1038/jhg.2016.117. PMID: 27708272

Diagnosis

Tung YC, Lee NC, Hwu WL, Liu SY, Lee CT, Chien YH, Tsai WY
J Formos Med Assoc 2018 Oct;117(10):909-914. Epub 2017 Dec 16 doi: 10.1016/j.jfma.2017.11.014. PMID: 29254682
Hirschfeldova K, Florianova M, Kebrdlova V, Urbanova M, Stekrova J
J Hum Genet 2017 Feb;62(2):253-257. Epub 2016 Oct 6 doi: 10.1038/jhg.2016.117. PMID: 27708272
Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B
J Med Genet 2007 May;44(5):306-13. Epub 2006 Dec 20 doi: 10.1136/jmg.2006.046581. PMID: 17182655Free PMC Article

Therapy

Andrade-Silva FB, Rocha JP, Carvalho A, Kojima KE, Silva JS
Injury 2019 Feb;50(2):386-391. Epub 2018 Dec 4 doi: 10.1016/j.injury.2018.12.001. PMID: 30558805
Iida K, Sudo A, Ishiguro S
J Orthop Sci 2010 Mar;15(2):204-9. Epub 2010 Apr 1 doi: 10.1007/s00776-009-1449-1. PMID: 20358333
Stern EB, Ytterberg SR, Krug HE, Larson LM, Portoghese CP, Kratz WN, Mahowald ML
Arthritis Care Res 1997 Feb;10(1):27-35. doi: 10.1002/art.1790100105. PMID: 9313387

Prognosis

Gürsoy S, Hazan F, Aykut A, Nalbantoğlu Ö, Korkmaz HA, Demir K, Özkan B, Çoğulu Ö
J Clin Res Pediatr Endocrinol 2020 Nov 25;12(4):358-365. Epub 2020 Apr 16 doi: 10.4274/jcrpe.galenos.2020.2019.0001. PMID: 32295321Free PMC Article
Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B
J Med Genet 2007 May;44(5):306-13. Epub 2006 Dec 20 doi: 10.1136/jmg.2006.046581. PMID: 17182655Free PMC Article

Clinical prediction guides

Andrade-Silva FB, Rocha JP, Carvalho A, Kojima KE, Silva JS
Injury 2019 Feb;50(2):386-391. Epub 2018 Dec 4 doi: 10.1016/j.injury.2018.12.001. PMID: 30558805
Tung YC, Lee NC, Hwu WL, Liu SY, Lee CT, Chien YH, Tsai WY
J Formos Med Assoc 2018 Oct;117(10):909-914. Epub 2017 Dec 16 doi: 10.1016/j.jfma.2017.11.014. PMID: 29254682
Hirschfeldova K, Florianova M, Kebrdlova V, Urbanova M, Stekrova J
J Hum Genet 2017 Feb;62(2):253-257. Epub 2016 Oct 6 doi: 10.1038/jhg.2016.117. PMID: 27708272
Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B
J Med Genet 2007 May;44(5):306-13. Epub 2006 Dec 20 doi: 10.1136/jmg.2006.046581. PMID: 17182655Free PMC Article

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