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Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome(SHNS)

MedGen UID:
815490
•Concept ID:
C3809160
•
Disease or Syndrome
Synonym: Shaheen syndrome
SNOMED CT: Shaheen syndrome (773553003); Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (773553003)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): COG6 (13q14.11)
 
Monarch Initiative: MONDO:0014131
OMIM®: 615328
Orphanet: ORPHA363523

Definition

Shaheen syndrome (SHNS) is an autosomal recessive disorder characterized by severely impaired intellectual development, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some patients may develop mild microcephaly (summary by Shaheen et al., 2013). [from OMIM]

Clinical features

From HPO
Palmoplantar keratosis
MedGen UID:
44017
•Concept ID:
C0022596
•
Disease or Syndrome
Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.
See: Feature record | Search on this feature
Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Carious teeth
MedGen UID:
8288
•Concept ID:
C0011334
•
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
See: Feature record | Search on this feature
Enamel hypoplasia
MedGen UID:
3730
•Concept ID:
C0011351
•
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
See: Feature record | Search on this feature
Hypohidrosis
MedGen UID:
43796
•Concept ID:
C0020620
•
Disease or Syndrome
Abnormally diminished capacity to sweat.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Follow this link to review classifications for Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-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 Effectiveness of Rehabilitation Interventions on Pain and Disability for Complex Regional Pain Syndrome: A Systematic Review and Meta-analysis.
Shafiee E, MacDermid J, Packham T, Walton D, Grewal R, Farzad M
Clin J Pain 2023 Feb 1;39(2):91-105. doi: 10.1097/AJP.0000000000001089. PMID: 36650605
Frailty: Evaluation and Management.
Allison R 2nd, Assadzandi S, Adelman M
Am Fam Physician 2021 Feb 15;103(4):219-226. PMID: 33587574
Care of Adults With Intellectual and Developmental Disabilities: Down Syndrome.
Wilson B, Jones KB, Weedon D, Bilder D
FP Essent 2015 Dec;439:20-5. PMID: 26669211
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
Oral health of patients with intellectual disabilities: a systematic review.
Anders PL, Davis EL
Spec Care Dentist 2010 May-Jun;30(3):110-7. doi: 10.1111/j.1754-4505.2010.00136.x. PMID: 20500706

Diagnosis

Frailty: Evaluation and Management.
Allison R 2nd, Assadzandi S, Adelman M
Am Fam Physician 2021 Feb 15;103(4):219-226. PMID: 33587574
The reliability and validity of the Timed Up and Go as a clinical tool in individuals with and without disabilities across a lifespan: a systematic review.
Christopher A, Kraft E, Olenick H, Kiesling R, Doty A
Disabil Rehabil 2021 Jun;43(13):1799-1813. Epub 2019 Oct 26 doi: 10.1080/09638288.2019.1682066. PMID: 31656104
Approaches to the diagnosis and prevention of frailty.
Woolford SJ, Sohan O, Dennison EM, Cooper C, Patel HP
Aging Clin Exp Res 2020 Sep;32(9):1629-1637. Epub 2020 Apr 30 doi: 10.1007/s40520-020-01559-3. PMID: 32356135Free PMC Article
Idiopathic Normal Pressure Hydrocephalus (Hakim-Adams Syndrome): Clinical Symptoms, Diagnosis and Treatment.
Gavrilov GV, Gaydar BV, Svistov DV, Korovin AE, Samarcev IN, Churilov LP, Tovpeko DV
Psychiatr Danub 2019 Dec;31(Suppl 5):737-744. PMID: 32160166
Chronic pain as a symptom or a disease: the IASP Classification of Chronic Pain for the International Classification of Diseases (ICD-11).
Treede RD, Rief W, Barke A, Aziz Q, Bennett MI, Benoliel R, Cohen M, Evers S, Finnerup NB, First MB, Giamberardino MA, Kaasa S, Korwisi B, Kosek E, Lavand'homme P, Nicholas M, Perrot S, Scholz J, Schug S, Smith BH, Svensson P, Vlaeyen JWS, Wang SJ
Pain 2019 Jan;160(1):19-27. doi: 10.1097/j.pain.0000000000001384. PMID: 30586067

Therapy

The Effectiveness of Rehabilitation Interventions on Pain and Disability for Complex Regional Pain Syndrome: A Systematic Review and Meta-analysis.
Shafiee E, MacDermid J, Packham T, Walton D, Grewal R, Farzad M
Clin J Pain 2023 Feb 1;39(2):91-105. doi: 10.1097/AJP.0000000000001089. PMID: 36650605
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
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
Interventions for treating pain and disability in adults with complex regional pain syndrome.
O'Connell NE, Wand BM, McAuley J, Marston L, Moseley GL
Cochrane Database Syst Rev 2013 Apr 30;2013(4):CD009416. doi: 10.1002/14651858.CD009416.pub2. PMID: 23633371Free 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

The reliability and validity of the Timed Up and Go as a clinical tool in individuals with and without disabilities across a lifespan: a systematic review.
Christopher A, Kraft E, Olenick H, Kiesling R, Doty A
Disabil Rehabil 2021 Jun;43(13):1799-1813. Epub 2019 Oct 26 doi: 10.1080/09638288.2019.1682066. PMID: 31656104
Dental health in persons with disability.
Devinsky O, Boyce D, Robbins M, Pressler M
Epilepsy Behav 2020 Sep;110:107174. Epub 2020 Jun 9 doi: 10.1016/j.yebeh.2020.107174. PMID: 32531727
Interventions for treating pain and disability in adults with complex regional pain syndrome.
O'Connell NE, Wand BM, McAuley J, Marston L, Moseley GL
Cochrane Database Syst Rev 2013 Apr 30;2013(4):CD009416. doi: 10.1002/14651858.CD009416.pub2. PMID: 23633371Free PMC Article
Frailty in older adults: evidence for a phenotype.
Fried LP, Tangen CM, Walston J, Newman AB, Hirsch C, Gottdiener J, Seeman T, Tracy R, Kop WJ, Burke G, McBurnie MA; Cardiovascular Health Study Collaborative Research Group
J Gerontol A Biol Sci Med Sci 2001 Mar;56(3):M146-56. doi: 10.1093/gerona/56.3.m146. PMID: 11253156
Recognizing post-polio syndrome.
Bartfeld H, Ma D
Hosp Pract (1995) 1996 May 15;31(5):95-7, 101-3, 107 passim. PMID: 8632051

Clinical prediction guides

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article
The reliability and validity of the Timed Up and Go as a clinical tool in individuals with and without disabilities across a lifespan: a systematic review.
Christopher A, Kraft E, Olenick H, Kiesling R, Doty A
Disabil Rehabil 2021 Jun;43(13):1799-1813. Epub 2019 Oct 26 doi: 10.1080/09638288.2019.1682066. PMID: 31656104
The relationship between nutrition and frailty: Effects of protein intake, nutritional supplementation, vitamin D and exercise on muscle metabolism in the elderly. A systematic review.
Artaza-Artabe I, Sáez-López P, Sánchez-Hernández N, Fernández-Gutierrez N, Malafarina V
Maturitas 2016 Nov;93:89-99. Epub 2016 Apr 14 doi: 10.1016/j.maturitas.2016.04.009. PMID: 27125943
Functional disability 5 years after acute respiratory distress syndrome.
Herridge MS, Tansey CM, Matté A, Tomlinson G, Diaz-Granados N, Cooper A, Guest CB, Mazer CD, Mehta S, Stewart TE, Kudlow P, Cook D, Slutsky AS, Cheung AM; Canadian Critical Care Trials Group
N Engl J Med 2011 Apr 7;364(14):1293-304. doi: 10.1056/NEJMoa1011802. PMID: 21470008
Frailty in older adults: evidence for a phenotype.
Fried LP, Tangen CM, Walston J, Newman AB, Hirsch C, Gottdiener J, Seeman T, Tracy R, Kop WJ, Burke G, McBurnie MA; Cardiovascular Health Study Collaborative Research Group
J Gerontol A Biol Sci Med Sci 2001 Mar;56(3):M146-56. doi: 10.1093/gerona/56.3.m146. PMID: 11253156

Recent systematic reviews

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
Comparison of dry needling and trigger point manual therapy in patients with neck and upper back myofascial pain syndrome: a systematic review and meta-analysis.
Lew J, Kim J, Nair P
J Man Manip Ther 2021 Jun;29(3):136-146. Epub 2020 Sep 22 doi: 10.1080/10669817.2020.1822618. PMID: 32962567Free 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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      Clinical tests in GTR
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    • OMIM(Genes)
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