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Radioulnar synostosis-microcephaly-scoliosis syndrome

MedGen UID:
400399
•Concept ID:
C1863881
•
Disease or Syndrome
Synonyms: GIUFFRE-TSUKAHARA SYNDROME; Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation; Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011320
OMIM®: 603438
Orphanet: ORPHA3268

Definition

Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRadioulnar synostosis-microcephaly-scoliosis syndrome
Follow this link to review classifications for Radioulnar synostosis-microcephaly-scoliosis syndrome in Orphanet.

Professional guidelines

PubMed

Diagnostic utility of sonography and correlation between sonographic and clinical findings in patients with carpal tunnel syndrome.
Tajika T, Kobayashi T, Yamamoto A, Kaneko T, Takagishi K
J Ultrasound Med 2013 Nov;32(11):1987-93. doi: 10.7863/ultra.32.11.1987. PMID: 24154903
Inherited thrombocytopenias: an approach to diagnosis and management.
Geddis AE
Int J Lab Hematol 2013 Feb;35(1):14-25. Epub 2012 Jul 30 doi: 10.1111/j.1751-553X.2012.01454.x. PMID: 22846067
Current concepts and treatment for the rheumatoid wrist.
Rizzo M, Cooney WP 3rd
Hand Clin 2011 Feb;27(1):57-72. doi: 10.1016/j.hcl.2010.09.004. PMID: 21176801

Recent clinical studies

Etiology

Antegrade Fixation of Distal Metaphyseal Ulnar Shortening Osteotomy.
Zhou JY, Frey CS, Shah KN, Ostergaard PJ, Yao J
Tech Hand Up Extrem Surg 2023 Sep 1;27(3):182-188. doi: 10.1097/BTH.0000000000000435. PMID: 37185273
Stress distribution pattern in the distal radioulnar joint before and after ulnar shortening osteotomy in patients with ulnar impaction syndrome.
Hontani K, Matsui Y, Kawamura D, Urita A, Momma D, Hamano H, Iwasaki N
Sci Rep 2021 Sep 9;11(1):17891. doi: 10.1038/s41598-021-97398-x. PMID: 34504202Free PMC Article
The "wafer" procedure. Partial distal ulnar resection.
Feldon P, Terrono AL, Belsky MR
Clin Orthop Relat Res 1992 Feb;(275):124-9. PMID: 1735200
Familial radioulnar synostosis.
Spritz RA
J Med Genet 1978 Apr;15(2):160-2. doi: 10.1136/jmg.15.2.160. PMID: 641954Free PMC Article
Fracture of the distal radius including sequelae--shoulder-hand-finger syndrome, disturbance in the distal radio-ulnar joint and impairment of nerve function. A clinical and experimental study.
Frykman G
Acta Orthop Scand 1967:Suppl 108:3+. doi: 10.3109/ort.1967.38.suppl-108.01. PMID: 4175195

Diagnosis

Can Diffusion Tensor Imaging Apparent Diffusion Coefficient Diagnose Carpal Tunnel Syndrome? A Systematic Review and Meta-Analysis.
Evans AG, Morgan MD, Aiken BA, Assi PE, Joseph JT, Kesayan T, Mioton LM, Esteve IVM, Hill JB, Thayer WP, Al Kassis S
Hand (N Y) 2023 Jan;18(1_suppl):91S-99S. Epub 2022 Jun 13 doi: 10.1177/15589447221096706. PMID: 35695339Free PMC Article
Congenital amegakaryocytic thrombocytopenia - Not a single disease.
Germeshausen M, Ballmaier M
Best Pract Res Clin Haematol 2021 Jun;34(2):101286. Epub 2021 Jul 14 doi: 10.1016/j.beha.2021.101286. PMID: 34404532
Inherited thrombocytopenias: an approach to diagnosis and management.
Geddis AE
Int J Lab Hematol 2013 Feb;35(1):14-25. Epub 2012 Jul 30 doi: 10.1111/j.1751-553X.2012.01454.x. PMID: 22846067
Longitudinal split tears of the ulnotriquetral ligament.
Tay SC, Berger RA, Parker WL
Hand Clin 2010 Nov;26(4):495-501. doi: 10.1016/j.hcl.2010.07.004. PMID: 20951899
MRI of the wrist.
Steinbach LS, Smith DK
Clin Imaging 2000 Sep-Oct;24(5):298-322. doi: 10.1016/s0899-7071(00)00218-7. PMID: 11331161

Therapy

Can Diffusion Tensor Imaging Apparent Diffusion Coefficient Diagnose Carpal Tunnel Syndrome? A Systematic Review and Meta-Analysis.
Evans AG, Morgan MD, Aiken BA, Assi PE, Joseph JT, Kesayan T, Mioton LM, Esteve IVM, Hill JB, Thayer WP, Al Kassis S
Hand (N Y) 2023 Jan;18(1_suppl):91S-99S. Epub 2022 Jun 13 doi: 10.1177/15589447221096706. PMID: 35695339Free PMC Article
Stress distribution pattern in the distal radioulnar joint before and after ulnar shortening osteotomy in patients with ulnar impaction syndrome.
Hontani K, Matsui Y, Kawamura D, Urita A, Momma D, Hamano H, Iwasaki N
Sci Rep 2021 Sep 9;11(1):17891. doi: 10.1038/s41598-021-97398-x. PMID: 34504202Free PMC Article
Recurrent atraumatic acute carpal tunnel syndrome due to hematoma caused by distal radioulnar joint arthritis during anticoagulant treatment with apixaban.
Komura S, Hirakawa A, Masuda T, Ito Y, Akiyama H
Arch Orthop Trauma Surg 2017 Aug;137(8):1161-1164. Epub 2017 Jun 12 doi: 10.1007/s00402-017-2730-y. PMID: 28608274
Sonographically guided distal radioulnar joint injection: technique and validation in a cadaveric model.
Smith J, Rizzo M, Sayeed YA, Finnoff JT
J Ultrasound Med 2011 Nov;30(11):1587-92. doi: 10.7863/jum.2011.30.11.1587. PMID: 22039032
Rotational osteotomies for congenital radioulnar synostosis.
Ramachandran M, Lau K, Jones DH
J Bone Joint Surg Br 2005 Oct;87(10):1406-10. doi: 10.1302/0301-620X.87B10.16445. PMID: 16189317

Prognosis

Stress distribution pattern in the distal radioulnar joint before and after ulnar shortening osteotomy in patients with ulnar impaction syndrome.
Hontani K, Matsui Y, Kawamura D, Urita A, Momma D, Hamano H, Iwasaki N
Sci Rep 2021 Sep 9;11(1):17891. doi: 10.1038/s41598-021-97398-x. PMID: 34504202Free PMC Article
The distal radioulnar joint in rheumatoid arthritis.
De Smet L
Acta Orthop Belg 2006 Aug;72(4):381-6. PMID: 17009815
The "wafer" procedure. Partial distal ulnar resection.
Feldon P, Terrono AL, Belsky MR
Clin Orthop Relat Res 1992 Feb;(275):124-9. PMID: 1735200
Radiologic aspects of the Galeazzi lesion.
de Carvalho A, Møller JT, Vestergård-Andersen T
Eur J Radiol 1984 Aug;4(3):169-72. PMID: 6468404
Fracture of the distal radius including sequelae--shoulder-hand-finger syndrome, disturbance in the distal radio-ulnar joint and impairment of nerve function. A clinical and experimental study.
Frykman G
Acta Orthop Scand 1967:Suppl 108:3+. doi: 10.3109/ort.1967.38.suppl-108.01. PMID: 4175195

Clinical prediction guides

Clinical Presentation and Characteristics of the Upper Extremity in Patients with Musculocontractural Ehlers-Danlos Syndrome.
Isobe F, Hayashi M, Kobayashi R, Nakamura M, Kosho T, Takahashi J
Genes (Basel) 2022 Oct 29;13(11) doi: 10.3390/genes13111978. PMID: 36360214Free PMC Article
Stress distribution pattern in the distal radioulnar joint before and after ulnar shortening osteotomy in patients with ulnar impaction syndrome.
Hontani K, Matsui Y, Kawamura D, Urita A, Momma D, Hamano H, Iwasaki N
Sci Rep 2021 Sep 9;11(1):17891. doi: 10.1038/s41598-021-97398-x. PMID: 34504202Free PMC Article
Radial Polydactyly. What's New?
Perez-Lopez LM, la Iglesia DG, Cabrera-Gonzalez M
Curr Pediatr Rev 2018;14(2):91-96. doi: 10.2174/1573396314666180124102012. PMID: 29366421
The distal radioulnar joint in rheumatoid arthritis.
De Smet L
Acta Orthop Belg 2006 Aug;72(4):381-6. PMID: 17009815
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?
Manouvrier S, Moerman A, Coeslier A, Devisme L, Boute O, Le Merrer M
Am J Med Genet 2000 Feb 28;90(5):351-5. doi: 10.1002/(sici)1096-8628(20000228)90:5<351::aid-ajmg1>3.0.co;2-k. PMID: 10706353

Recent systematic reviews

Can Diffusion Tensor Imaging Apparent Diffusion Coefficient Diagnose Carpal Tunnel Syndrome? A Systematic Review and Meta-Analysis.
Evans AG, Morgan MD, Aiken BA, Assi PE, Joseph JT, Kesayan T, Mioton LM, Esteve IVM, Hill JB, Thayer WP, Al Kassis S
Hand (N Y) 2023 Jan;18(1_suppl):91S-99S. Epub 2022 Jun 13 doi: 10.1177/15589447221096706. PMID: 35695339Free PMC Article

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