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Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

MedGen UID:
350833
•Concept ID:
C1863090
•
Disease or Syndrome
Synonyms: Alopecia, epilepsy, pyorrhea, mental subnormality; ALOPECIA, PSYCHOMOTOR EPILEPSY, PYORRHEA, AND MENTAL SUBNORMALITY; Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea; SHOKEIR SYNDROME
SNOMED CT: Shokeir syndrome (720980004); Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (720980004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0007085
OMIM®: 104130
Orphanet: ORPHA1008

Definition

Syndrome characterised by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontal pyorrhoea. Total permanent alopecia and periodontal pyorrhoea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlopecia-epilepsy-pyorrhea-intellectual disability syndrome
Follow this link to review classifications for Alopecia-epilepsy-pyorrhea-intellectual disability syndrome in Orphanet.

Professional guidelines

PubMed

Consensus statement on concussion in sport: the 6th International Conference on Concussion in Sport-Amsterdam, October 2022.
Patricios JS, Schneider KJ, Dvorak J, Ahmed OH, Blauwet C, Cantu RC, Davis GA, Echemendia RJ, Makdissi M, McNamee M, Broglio S, Emery CA, Feddermann-Demont N, Fuller GW, Giza CC, Guskiewicz KM, Hainline B, Iverson GL, Kutcher JS, Leddy JJ, Maddocks D, Manley G, McCrea M, Purcell LK, Putukian M, Sato H, Tuominen MP, Turner M, Yeates KO, Herring SA, Meeuwisse W
Br J Sports Med 2023 Jun;57(11):695-711. doi: 10.1136/bjsports-2023-106898. PMID: 37316210
Diagnosis and Treatment of Multiple Sclerosis: A Review.
McGinley MP, Goldschmidt CH, Rae-Grant AD
JAMA 2021 Feb 23;325(8):765-779. doi: 10.1001/jama.2020.26858. PMID: 33620411
Diagnostic Criteria for Temporomandibular Disorders (DC/TMD) for Clinical and Research Applications: recommendations of the International RDC/TMD Consortium Network* and Orofacial Pain Special Interest Group†.
Schiffman E, Ohrbach R, Truelove E, Look J, Anderson G, Goulet JP, List T, Svensson P, Gonzalez Y, Lobbezoo F, Michelotti A, Brooks SL, Ceusters W, Drangsholt M, Ettlin D, Gaul C, Goldberg LJ, Haythornthwaite JA, Hollender L, Jensen R, John MT, De Laat A, de Leeuw R, Maixner W, van der Meulen M, Murray GM, Nixdorf DR, Palla S, Petersson A, Pionchon P, Smith B, Visscher CM, Zakrzewska J, Dworkin SF; International RDC/TMD Consortium Network, International association for Dental Research; Orofacial Pain Special Interest Group, International Association for the Study of Pain
J Oral Facial Pain Headache 2014 Winter;28(1):6-27. doi: 10.11607/jop.1151. PMID: 24482784Free PMC Article

Recent clinical studies

Etiology

The musculoskeletal syndrome of menopause.
Wright VJ, Schwartzman JD, Itinoche R, Wittstein J
Climacteric 2024 Oct;27(5):466-472. Epub 2024 Jul 30 doi: 10.1080/13697137.2024.2380363. PMID: 39077777
Epigenetic Causes of Overgrowth Syndromes.
Lui JC, Baron J
J Clin Endocrinol Metab 2024 Jan 18;109(2):312-320. doi: 10.1210/clinem/dgad420. PMID: 37450557Free PMC Article
Classification and molecular pathogenesis of NBIA syndromes.
Di Meo I, Tiranti V
Eur J Paediatr Neurol 2018 Mar;22(2):272-284. Epub 2018 Jan 17 doi: 10.1016/j.ejpn.2018.01.008. PMID: 29409688
Cognitive frailty: rational and definition from an (I.A.N.A./I.A.G.G.) international consensus group.
Kelaiditi E, Cesari M, Canevelli M, van Kan GA, Ousset PJ, Gillette-Guyonnet S, Ritz P, Duveau F, Soto ME, Provencher V, Nourhashemi F, Salvà A, Robert P, Andrieu S, Rolland Y, Touchon J, Fitten JL, Vellas B; IANA/IAGG
J Nutr Health Aging 2013 Sep;17(9):726-34. doi: 10.1007/s12603-013-0367-2. PMID: 24154642
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

SCAF4-related syndromic intellectual disability.
Carvalho LML, Pinto CF, de Oliveira Scliar M, Otto PA, Krepischi ACV, Rosenberg C
Am J Med Genet A 2023 Feb;191(2):570-574. Epub 2022 Nov 5 doi: 10.1002/ajmg.a.63032. PMID: 36333968
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents.
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
X-linked mental retardation.
Ropers HH, Hamel BC
Nat Rev Genet 2005 Jan;6(1):46-57. doi: 10.1038/nrg1501. PMID: 15630421
Piriformis syndrome.
Foster MR
Orthopedics 2002 Aug;25(8):821-5. doi: 10.3928/0147-7447-20020801-12. PMID: 12195908

Therapy

17q12 microdeletion syndrome.
Bhargav VSLV, Venkatachari M, Arun Babu T
BMJ Case Rep 2024 Nov 7;17(11) doi: 10.1136/bcr-2024-262697. PMID: 39510608
The efficacy of rehabilitation in people with Guillain-Barrè syndrome: a systematic review of randomized controlled trials.
Sulli S, Scala L, Berardi A, Conte A, Baione V, Belvisi D, Leodori G, Galeoto G
Expert Rev Neurother 2021 Apr;21(4):455-461. Epub 2021 Feb 23 doi: 10.1080/14737175.2021.1890034. PMID: 33567916
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents.
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.
Smart KM, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2016 Feb 24;2(2):CD010853. doi: 10.1002/14651858.CD010853.pub2. PMID: 26905470Free PMC Article
Stroke syndromes.
Baumlin KM, Richardson LD
Emerg Med Clin North Am 1997 Aug;15(3):551-61. doi: 10.1016/s0733-8627(05)70317-5. PMID: 9255132

Prognosis

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M
Hum Mutat 2020 May;41(5):1042-1050. Epub 2020 Mar 5 doi: 10.1002/humu.24001. PMID: 32097528
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents.
Hon KL, Leung AKC, Torres AR
Recent Pat Inflamm Allergy Drug Discov 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. PMID: 29745347
Mirror therapy: A potential intervention for pain management.
Wittkopf PG, Johnson MI
Rev Assoc Med Bras (1992) 2017 Nov;63(11):1000-1005. doi: 10.1590/1806-9282.63.11.1000. PMID: 29451665
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Increased nuchal translucency with normal karyotype.
Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH
Am J Obstet Gynecol 2005 Apr;192(4):1005-21. doi: 10.1016/j.ajog.2004.12.093. PMID: 15846173

Clinical prediction guides

ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum.
Yates TM, Drucker M, Barnicoat A, Low K, Gerkes EH, Fry AE, Parker MJ, O'Driscoll M, Charles P, Cox H, Marey I, Keren B, Rinne T, McEntagart M, Ramachandran V, Drury S, Vansenne F, Sival DA, Herkert JC, Callewaert B, Tan WH, Balasubramanian M
Hum Mutat 2020 May;41(5):1042-1050. Epub 2020 Mar 5 doi: 10.1002/humu.24001. PMID: 32097528
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article
Clinically isolated syndromes and the relationship to multiple sclerosis.
Brownlee WJ, Miller DH
J Clin Neurosci 2014 Dec;21(12):2065-71. Epub 2014 Jul 11 doi: 10.1016/j.jocn.2014.02.026. PMID: 25027666
The diagnosis of multiple sclerosis and the various related demyelinating syndromes: a critical review.
Karussis D
J Autoimmun 2014 Feb-Mar;48-49:134-42. Epub 2014 Feb 10 doi: 10.1016/j.jaut.2014.01.022. PMID: 24524923
A clinical prognostic scoring system for Guillain-Barré syndrome.
van Koningsveld R, Steyerberg EW, Hughes RA, Swan AV, van Doorn PA, Jacobs BC
Lancet Neurol 2007 Jul;6(7):589-94. doi: 10.1016/S1474-4422(07)70130-8. PMID: 17537676

Recent systematic reviews

Effectiveness of Pain Neuroscience Education in Patients with Chronic Musculoskeletal Pain and Central Sensitization: A Systematic Review.
Lepri B, Romani D, Storari L, Barbari V
Int J Environ Res Public Health 2023 Feb 24;20(5) doi: 10.3390/ijerph20054098. PMID: 36901108Free PMC Article
mHealth Intervention for Improving Pain, Quality of Life, and Functional Disability in Patients With Chronic Pain: Systematic Review.
Moreno-Ligero M, Moral-Munoz JA, Salazar A, Failde I
JMIR Mhealth Uhealth 2023 Feb 2;11:e40844. doi: 10.2196/40844. PMID: 36729570Free PMC Article
Efficacy of Dry Needling and Acupuncture in Patients with Fibromyalgia: A Systematic Review and Meta-Analysis.
Valera-Calero JA, Fernández-de-Las-Peñas C, Navarro-Santana MJ, Plaza-Manzano G
Int J Environ Res Public Health 2022 Aug 11;19(16) doi: 10.3390/ijerph19169904. PMID: 36011540Free PMC Article
Physiotherapy for pain and disability in adults with complex regional pain syndrome (CRPS) types I and II.
Smart KM, Ferraro MC, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2022 May 17;5(5):CD010853. doi: 10.1002/14651858.CD010853.pub3. PMID: 35579382Free PMC Article
Physical therapy in Down syndrome: systematic review and meta-analysis.
Ruiz-González L, Lucena-Antón D, Salazar A, Martín-Valero R, Moral-Munoz JA
J Intellect Disabil Res 2019 Aug;63(8):1041-1067. Epub 2019 Feb 20 doi: 10.1111/jir.12606. PMID: 30788876

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