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Arthrogryposis-hyperkeratosis syndrome, lethal form

MedGen UID:
349230
•Concept ID:
C1859710
•
Disease or Syndrome
Synonyms: Arthrogryposis with Hyperkeratosis; Johnston Aarons Schelley syndrome; Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns
SNOMED CT: Arthrogryposis hyperkeratosis syndrome lethal form (726620005); Johnston Aarons Schelley syndrome (726620005)
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:0008826
OMIM®: 208158
Orphanet: ORPHA1485

Definition

An arthrogryposis syndrome described in two siblings to date with the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin) and death occurring in early infancy. There have been no further reports in the literature since 1993. [from SNOMEDCT_US]

Clinical features

From HPO
Arthrogryposis multiplex congenita
MedGen UID:
2455
•Concept ID:
C0003886
•
Finding
Multiple congenital contractures in different body areas.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArthrogryposis-hyperkeratosis syndrome, lethal form
Follow this link to review classifications for Arthrogryposis-hyperkeratosis syndrome, lethal form in Orphanet.

Professional guidelines

PubMed

Non lethal Raine syndrome and differential diagnosis.
Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O'Sullivan J, Bhaskar S, Williams SS, Elalloussi M, Lyahyai J, Sbihi L, Cherkaoui Jaouad I, Sbihi A, Newman WG, Sefiani A
Eur J Med Genet 2016 Nov;59(11):577-583. Epub 2016 Sep 22 doi: 10.1016/j.ejmg.2016.09.018. PMID: 27667191
Graft versus host disease: clinical evaluation, diagnosis and management.
Espana EM, Shah S, Santhiago MR, Singh AD
Graefes Arch Clin Exp Ophthalmol 2013 May;251(5):1257-66. Epub 2013 Mar 17 doi: 10.1007/s00417-013-2301-z. PMID: 23504086
Pheochromocytoma--recognition and management.
Ram CV, Engelman K
Curr Probl Cardiol 1979 Apr;4(1):1-37. doi: 10.1016/s0146-2806(79)80003-1. PMID: 42512

Recent clinical studies

Etiology

Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.
Mete O, Asa SL, Gill AJ, Kimura N, de Krijger RR, Tischler A
Endocr Pathol 2022 Mar;33(1):90-114. Epub 2022 Mar 13 doi: 10.1007/s12022-022-09704-6. PMID: 35285002
Leishmaniasis and Heart.
Farina JM, García-Martínez CE, Saldarriaga C, Pérez GE, Melo MB, Wyss F, Sosa-Liprandi A, Ortiz-Lopez HI, Gupta S, López-Santi R, Mendoza I, Baranchuk A
Arch Cardiol Mex 2022;92(1):85-93. doi: 10.24875/ACM.20000508. PMID: 34987235Free PMC Article
Germline genetic variability in pancreatic cancer risk and prognosis.
Gentiluomo M, Canzian F, Nicolini A, Gemignani F, Landi S, Campa D
Semin Cancer Biol 2022 Feb;79:105-131. Epub 2020 Aug 18 doi: 10.1016/j.semcancer.2020.08.003. PMID: 32818625
What exactly is catatonia in children and adolescents.
Remberk B, Szostakiewicz Ł, Kałwa A, Bogucka-Bonikowska A, Borowska A, Racicka E
Psychiatr Pol 2020 Aug 31;54(4):759-775. doi: 10.12740/PP/113013. PMID: 33386726
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article

Diagnosis

Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.
Mete O, Asa SL, Gill AJ, Kimura N, de Krijger RR, Tischler A
Endocr Pathol 2022 Mar;33(1):90-114. Epub 2022 Mar 13 doi: 10.1007/s12022-022-09704-6. PMID: 35285002
Polymorphic Ventricular Tachycardia: Terminology, Mechanism, Diagnosis, and Emergency Therapy.
Viskin S, Chorin E, Viskin D, Hochstadt A, Schwartz AL, Rosso R
Circulation 2021 Sep 7;144(10):823-839. doi: 10.1161/CIRCULATIONAHA.121.055783. PMID: 34491774
Outcomes in Hypoplastic Left Heart Syndrome.
Metcalf MK, Rychik J
Pediatr Clin North Am 2020 Oct;67(5):945-962. doi: 10.1016/j.pcl.2020.06.008. PMID: 32888691
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article
Polycystic kidney disease.
Harris PC, Torres VE
Annu Rev Med 2009;60:321-37. doi: 10.1146/annurev.med.60.101707.125712. PMID: 18947299Free PMC Article

Therapy

Germline genetic variability in pancreatic cancer risk and prognosis.
Gentiluomo M, Canzian F, Nicolini A, Gemignani F, Landi S, Campa D
Semin Cancer Biol 2022 Feb;79:105-131. Epub 2020 Aug 18 doi: 10.1016/j.semcancer.2020.08.003. PMID: 32818625
Antibody-dependent cellular cytotoxicity response to SARS-CoV-2 in COVID-19 patients.
Yu Y, Wang M, Zhang X, Li S, Lu Q, Zeng H, Hou H, Li H, Zhang M, Jiang F, Wu J, Ding R, Zhou Z, Liu M, Si W, Zhu T, Li H, Ma J, Gu Y, She G, Li X, Zhang Y, Peng K, Huang W, Liu W, Wang Y
Signal Transduct Target Ther 2021 Sep 24;6(1):346. doi: 10.1038/s41392-021-00759-1. PMID: 34561414Free PMC Article
Encephalitis Induced by Immune Checkpoint Inhibitors: A Systematic Review.
Velasco R, Villagrán M, Jové M, Simó M, Vilariño N, Alemany M, Palmero R, Martínez-Villacampa MM, Nadal E, Bruna J
JAMA Neurol 2021 Jul 1;78(7):864-873. doi: 10.1001/jamaneurol.2021.0249. PMID: 33720308
What exactly is catatonia in children and adolescents.
Remberk B, Szostakiewicz Ł, Kałwa A, Bogucka-Bonikowska A, Borowska A, Racicka E
Psychiatr Pol 2020 Aug 31;54(4):759-775. doi: 10.12740/PP/113013. PMID: 33386726
Drug-induced pulmonary disease.
Cooper JA Jr, Matthay RA
Dis Mon 1987 Feb;33(2):61-120. doi: 10.1016/0011-5029(87)90021-6. PMID: 2885162

Prognosis

Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.
Mete O, Asa SL, Gill AJ, Kimura N, de Krijger RR, Tischler A
Endocr Pathol 2022 Mar;33(1):90-114. Epub 2022 Mar 13 doi: 10.1007/s12022-022-09704-6. PMID: 35285002
Malaria Related Neurocognitive Deficits and Behavioral Alterations.
Rosa-Gonçalves P, Ribeiro-Gomes FL, Daniel-Ribeiro CT
Front Cell Infect Microbiol 2022;12:829413. Epub 2022 Feb 22 doi: 10.3389/fcimb.2022.829413. PMID: 35281436Free PMC Article
Germline genetic variability in pancreatic cancer risk and prognosis.
Gentiluomo M, Canzian F, Nicolini A, Gemignani F, Landi S, Campa D
Semin Cancer Biol 2022 Feb;79:105-131. Epub 2020 Aug 18 doi: 10.1016/j.semcancer.2020.08.003. PMID: 32818625
Encephalitis Induced by Immune Checkpoint Inhibitors: A Systematic Review.
Velasco R, Villagrán M, Jové M, Simó M, Vilariño N, Alemany M, Palmero R, Martínez-Villacampa MM, Nadal E, Bruna J
JAMA Neurol 2021 Jul 1;78(7):864-873. doi: 10.1001/jamaneurol.2021.0249. PMID: 33720308
What exactly is catatonia in children and adolescents.
Remberk B, Szostakiewicz Ł, Kałwa A, Bogucka-Bonikowska A, Borowska A, Racicka E
Psychiatr Pol 2020 Aug 31;54(4):759-775. doi: 10.12740/PP/113013. PMID: 33386726

Clinical prediction guides

Overview of the 2022 WHO Classification of Paragangliomas and Pheochromocytomas.
Mete O, Asa SL, Gill AJ, Kimura N, de Krijger RR, Tischler A
Endocr Pathol 2022 Mar;33(1):90-114. Epub 2022 Mar 13 doi: 10.1007/s12022-022-09704-6. PMID: 35285002
Germline genetic variability in pancreatic cancer risk and prognosis.
Gentiluomo M, Canzian F, Nicolini A, Gemignani F, Landi S, Campa D
Semin Cancer Biol 2022 Feb;79:105-131. Epub 2020 Aug 18 doi: 10.1016/j.semcancer.2020.08.003. PMID: 32818625
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network, Zenker M, Lee B, Biesecker LG
Genet Med 2018 Oct;20(10):1175-1185. Epub 2018 Feb 22 doi: 10.1038/gim.2017.249. PMID: 29469822Free PMC Article
Molecular insights into the classification of high-grade endometrial carcinoma.
Hussein YR, Soslow RA
Pathology 2018 Feb;50(2):151-161. Epub 2017 Dec 13 doi: 10.1016/j.pathol.2017.09.010. PMID: 29246451
Alpha-thalassaemia.
Harteveld CL, Higgs DR
Orphanet J Rare Dis 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13. PMID: 20507641Free PMC Article

Recent systematic reviews

Encephalitis Induced by Immune Checkpoint Inhibitors: A Systematic Review.
Velasco R, Villagrán M, Jové M, Simó M, Vilariño N, Alemany M, Palmero R, Martínez-Villacampa MM, Nadal E, Bruna J
JAMA Neurol 2021 Jul 1;78(7):864-873. doi: 10.1001/jamaneurol.2021.0249. PMID: 33720308
Intra-venous albumin for preventing severe ovarian hyperstimulation syndrome.
Aboulghar M, Evers JH, Al-Inany H
Cochrane Database Syst Rev 2002;(2):CD001302. doi: 10.1002/14651858.CD001302. PMID: 12076404
Intra-venous albumin for preventing severe ovarian hyperstimulation syndrome.
Aboulghar M, Evers JH, Al-Inany H
Cochrane Database Syst Rev 2000;(2):CD001302. doi: 10.1002/14651858.CD001302. PMID: 10796765

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