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Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

MedGen UID:
1651057
•Concept ID:
C4751006
•
Disease or Syndrome
Synonyms: Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome; Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome; Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome; aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome; Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome; aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome; aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome; Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
SNOMED CT: Aphonia, hearing loss, retinal dystrophy, duplicated halluces, intellectual disability syndrome (773583007); Aphonia, deafness, retinal dystrophy, duplicated halluces, intellectual disability syndrome (773583007); Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (773583007)
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)
 
Monarch Initiative: MONDO:0017934
Orphanet: ORPHA324540

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (including thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome

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
Dry Needling Alone or in Combination with Exercise Therapy versus Other Interventions for Reducing Pain and Disability in Subacromial Pain Syndrome: A Systematic Review and Meta-Analysis.
Para-García G, García-Muñoz AM, López-Gil JF, Ruiz-Cárdenas JD, García-Guillén AI, López-Román FJ, Pérez-Piñero S, Abellán-Ruiz MS, Cánovas F, Victoria-Montesinos D
Int J Environ Res Public Health 2022 Sep 2;19(17) doi: 10.3390/ijerph191710961. PMID: 36078676Free PMC Article
Frailty: Evaluation and Management.
Allison R 2nd, Assadzandi S, Adelman M
Am Fam Physician 2021 Feb 15;103(4):219-226. PMID: 33587574
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
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
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
Down syndrome: a review of the literature.
Desai SS
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1997 Sep;84(3):279-85. doi: 10.1016/s1079-2104(97)90343-7. PMID: 9377191

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
Dry Needling Alone or in Combination with Exercise Therapy versus Other Interventions for Reducing Pain and Disability in Subacromial Pain Syndrome: A Systematic Review and Meta-Analysis.
Para-García G, García-Muñoz AM, López-Gil JF, Ruiz-Cárdenas JD, García-Guillén AI, López-Román FJ, Pérez-Piñero S, Abellán-Ruiz MS, Cánovas F, Victoria-Montesinos D
Int J Environ Res Public Health 2022 Sep 2;19(17) doi: 10.3390/ijerph191710961. PMID: 36078676Free PMC Article
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
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

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
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
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

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

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
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
Incidence and prevalence of patellofemoral pain: A systematic review and meta-analysis.
Smith BE, Selfe J, Thacker D, Hendrick P, Bateman M, Moffatt F, Rathleff MS, Smith TO, Logan P
PLoS One 2018;13(1):e0190892. Epub 2018 Jan 11 doi: 10.1371/journal.pone.0190892. PMID: 29324820Free PMC Article

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