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Proximal radio-ulnar synostosis

MedGen UID:
436690
Concept ID:
C2676443
Finding
HPO: HP:0005037

Definition

An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProximal radio-ulnar synostosis

Conditions with this feature

Al-Gazali syndrome
MedGen UID:
373020
Concept ID:
C1836121
Disease or Syndrome
Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality (summary by Ben-Mahmoud et al., 2018).
Radioulnar synostosis with amegakaryocytic thrombocytopenia 1
MedGen UID:
1637913
Concept ID:
C4551975
Disease or Syndrome
Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is characterized by thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm (summary by Niihori et al., 2015). Genetic Heterogeneity of Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia Radioulnar synostosis with amegakaryocytic thrombocytopenia-2 (RUSAT2; 616738) is caused by heterozygous mutation in the MECOM gene (165215) on chromosome 3q26.

Recent clinical studies

Etiology

Tarallo L, Lombardi M, Zambianchi F, Giorgini A, Catani F
BMC Musculoskelet Disord 2018 Oct 10;19(1):364. doi: 10.1186/s12891-018-2278-1. PMID: 30305070Free PMC Article
De Carli P, Gallucci GL, Donndorff AG, Boretto JG, Alfie VA
J Shoulder Elbow Surg 2009 May-Jun;18(3):e40-4. doi: 10.1016/j.jse.2009.02.005. PMID: 19393921
Morrison KD, Hunt TR 3rd
Hand Clin 2002 Feb;18(1):169-78. doi: 10.1016/s0749-0712(02)00009-4. PMID: 12143413
Failla JM, Amadio PC, Morrey BF
J Bone Joint Surg Am 1989 Sep;71(8):1208-13. PMID: 2777849
Dal Monte A, Andrisano A, Mignani G, Bungaro P
Ital J Orthop Traumatol 1987 Jun;13(2):181-6. PMID: 3451916

Diagnosis

Morrison KD, Hunt TR 3rd
Hand Clin 2002 Feb;18(1):169-78. doi: 10.1016/s0749-0712(02)00009-4. PMID: 12143413
Cleary JE, Omer GE Jr
J Bone Joint Surg Am 1985 Apr;67(4):539-45. PMID: 3980498

Therapy

Tarallo L, Lombardi M, Zambianchi F, Giorgini A, Catani F
BMC Musculoskelet Disord 2018 Oct 10;19(1):364. doi: 10.1186/s12891-018-2278-1. PMID: 30305070Free PMC Article
Castillo-Caro P, Dhanraj S, Haut P, Robertson K, Dror Y, Sharathkumar AA
J Pediatr Hematol Oncol 2010 Aug;32(6):479-85. doi: 10.1097/MPH.0b013e3181e5129d. PMID: 20562651
De Carli P, Gallucci GL, Donndorff AG, Boretto JG, Alfie VA
J Shoulder Elbow Surg 2009 May-Jun;18(3):e40-4. doi: 10.1016/j.jse.2009.02.005. PMID: 19393921
Velkes S, Tytiun Y, Salai M
Injury 2005 Oct;36(10):1254-6. Epub 2005 Jul 28 doi: 10.1016/j.injury.2004.12.034. PMID: 16054628
Dal Monte A, Andrisano A, Mignani G, Bungaro P
Ital J Orthop Traumatol 1987 Jun;13(2):181-6. PMID: 3451916

Prognosis

De Carli P, Gallucci GL, Donndorff AG, Boretto JG, Alfie VA
J Shoulder Elbow Surg 2009 May-Jun;18(3):e40-4. doi: 10.1016/j.jse.2009.02.005. PMID: 19393921
Failla JM, Amadio PC, Morrey BF
J Bone Joint Surg Am 1989 Sep;71(8):1208-13. PMID: 2777849

Clinical prediction guides

Tarallo L, Lombardi M, Zambianchi F, Giorgini A, Catani F
BMC Musculoskelet Disord 2018 Oct 10;19(1):364. doi: 10.1186/s12891-018-2278-1. PMID: 30305070Free PMC Article
Dal Monte A, Andrisano A, Bungaro P, Mignani G
Ital J Orthop Traumatol 1987 Jun;13(2):201-6. PMID: 3451918
Cleary JE, Omer GE Jr
J Bone Joint Surg Am 1985 Apr;67(4):539-45. PMID: 3980498

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