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Arthrogryposis syndrome

MedGen UID:
944686
•Concept ID:
CN261653
•
Disease or Syndrome
Synonym: arthrogryposis syndrome
 
Monarch Initiative: MONDO:0015225
Orphanet: ORPHA109007

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArthrogryposis syndrome

Professional guidelines

PubMed

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.
Niles KM, Blaser S, Shannon P, Chitayat D
Prenat Diagn 2019 Aug;39(9):720-731. Epub 2019 Jul 16 doi: 10.1002/pd.5505. PMID: 31218730
Visual diagnosis: multiple joint contractures in a male newborn.
Cherian L, Rosenberg JJ
Pediatr Rev 2010 Sep;31(9):385-7. doi: 10.1542/pir.31-9-385. PMID: 20810705

Recent clinical studies

Etiology

Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome.
Uehara M, Kosho T, Takano K, Inaba Y, Kuraishi S, Ikegami S, Oba H, Takizawa T, Munakata R, Hatakenaka T, Takahashi J
Spine (Phila Pa 1976) 2020 May 15;45(10):E600-E604. doi: 10.1097/BRS.0000000000003347. PMID: 31770315
A new distal arthrogryposis syndrome characterized by plantar flexion contractures.
Stevenson DA, Swoboda KJ, Sanders RK, Bamshad M
Am J Med Genet A 2006 Dec 15;140(24):2797-801. doi: 10.1002/ajmg.a.31528. PMID: 17103435Free PMC Article
The spectrum of arthrogryposis in 33 chinese children.
Wong V
Brain Dev 1997 Apr;19(3):187-96. doi: 10.1016/s0387-7604(96)00557-8. PMID: 9134190

Diagnosis

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, Kato H, Takahashi J, Kosho T
Am J Med Genet A 2019 Jun;179(6):948-957. Epub 2019 Apr 2 doi: 10.1002/ajmg.a.61142. PMID: 30941898
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.
Stevenson RE, Vincent V, Spellicy CJ, Friez MJ, Chaubey A
Am J Med Genet A 2018 Sep;176(9):1968-1971. Epub 2018 Aug 16 doi: 10.1002/ajmg.a.40362. PMID: 30113773
Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome?
al-Ghamdi MA, Polomeno RC, Chitayat D, Azouz EM, Teebi AS
Am J Med Genet 1997 Sep 5;71(4):401-5. doi: 10.1002/(sici)1096-8628(19970905)71:4<401::aid-ajmg6>3.0.co;2-w. PMID: 9286445
The spectrum of arthrogryposis in 33 chinese children.
Wong V
Brain Dev 1997 Apr;19(3):187-96. doi: 10.1016/s0387-7604(96)00557-8. PMID: 9134190
Part I. Amyoplasia: a common, sporadic condition with congenital contractures.
Hall JG, Reed SD, Driscoll EP
Am J Med Genet 1983 Aug;15(4):571-90. doi: 10.1002/ajmg.1320150407. PMID: 6614047

Therapy

Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome.
Uehara M, Kosho T, Takano K, Inaba Y, Kuraishi S, Ikegami S, Oba H, Takizawa T, Munakata R, Hatakenaka T, Takahashi J
Spine (Phila Pa 1976) 2020 May 15;45(10):E600-E604. doi: 10.1097/BRS.0000000000003347. PMID: 31770315
Biallelic deletions of the Waardenburg II syndrome gene, SOX10, cause a recognizable arthrogryposis syndrome.
Stevenson RE, Vincent V, Spellicy CJ, Friez MJ, Chaubey A
Am J Med Genet A 2018 Sep;176(9):1968-1971. Epub 2018 Aug 16 doi: 10.1002/ajmg.a.40362. PMID: 30113773
Cerebroarthrodigital syndrome: a newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia.
Spranger JW, Schinzel A, Myers T, Ryan J, Giedion A, Opitz JM
Am J Med Genet 1980;5(1):13-24. doi: 10.1002/ajmg.1320050104. PMID: 7395897

Prognosis

PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
Yamaguchi T, Takano K, Inaba Y, Morikawa M, Motobayashi M, Kawamura R, Wakui K, Nishi E, Hirabayashi SI, Fukushima Y, Kato H, Takahashi J, Kosho T
Am J Med Genet A 2019 Jun;179(6):948-957. Epub 2019 Apr 2 doi: 10.1002/ajmg.a.61142. PMID: 30941898
Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome?
al-Ghamdi MA, Polomeno RC, Chitayat D, Azouz EM, Teebi AS
Am J Med Genet 1997 Sep 5;71(4):401-5. doi: 10.1002/(sici)1096-8628(19970905)71:4<401::aid-ajmg6>3.0.co;2-w. PMID: 9286445
The spectrum of arthrogryposis in 33 chinese children.
Wong V
Brain Dev 1997 Apr;19(3):187-96. doi: 10.1016/s0387-7604(96)00557-8. PMID: 9134190
Congenital muscular dystrophy with distinct CNS involvement.
Olive M, Sirvent J, Ferrer I
Neuropediatrics 1994 Feb;25(1):48-50. doi: 10.1055/s-2008-1071583. PMID: 8208353
Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: a new recessive syndrome.
Johnston K, Aarons R, Schelley S, Horoupian D
Am J Med Genet 1993 Aug 15;47(2):246-9. doi: 10.1002/ajmg.1320470220. PMID: 8213913

Clinical prediction guides

Proximal Junctional Kyphosis After Posterior Spinal Fusion for Severe Kyphoscoliosis in a Patient With PIEZO2-deficient Arthrogryposis Syndrome.
Uehara M, Kosho T, Takano K, Inaba Y, Kuraishi S, Ikegami S, Oba H, Takizawa T, Munakata R, Hatakenaka T, Takahashi J
Spine (Phila Pa 1976) 2020 May 15;45(10):E600-E604. doi: 10.1097/BRS.0000000000003347. PMID: 31770315
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
Racca AW, Beck AE, McMillin MJ, Korte FS, Bamshad MJ, Regnier M
Hum Mol Genet 2015 Jun 15;24(12):3348-58. Epub 2015 Mar 3 doi: 10.1093/hmg/ddv084. PMID: 25740846Free PMC Article

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