Presentation
First being described and identified in 1985, Wieacker-Wolff syndrome is a rare, slowly progressive, genetic disorder present at birth and characterized by deformities of the joints of the feet, muscle degeneration, mild intellectual disability and an [en.wikipedia.org]
Entire Body System
- Disability
Systematic phenomics analysis deconvolutes genes mutated in intellectual disability into biologically coherent modules.Am J Hum Genet. 2016;98(1):149-64. [ Links ] 45. Jamra R. Genetics of autosomal recessive intellectual disability. [scielo.org.pe]
Wieacker syndrome Other names Intellectual disability-developmental delay-contractures syndrome This condition is inherited in an X-linked recessive manner. [en.wikipedia.org]
Skin
- Acne Vulgaris
Psychiatric and Developmental Effects of Isotretinoin (Retinoid) Treatment for Acne Vulgaris. Curr Ther Res Clin Exp. 2019; 90:27-31. [ Links ] 68. Liu Q, Van Bortle K, Zhang Y, Zhao M-T, Zhang JZ, Geller BS, et al. [scielo.org.pe]
Treatment
The mutations were found by exome sequencing in some of the families.[6] Management[edit] Treatment of Wieacker syndrome is typically supportive and symptomatic due to the little information physicians have on the disease.[1] Therapies such as physical [en.wikipedia.org]
Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis. Salud Pública México. 2008;50:132-41. [ Links ] 29. Maulik PK, Darmstadt GL. [scielo.org.pe]
Prognosis
Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis. Salud Pública México. 2008;50:132-41. [ Links ] 29. Maulik PK, Darmstadt GL. [scielo.org.pe]
Etiology
Intellectual disability: definition, etiological factors, classification, diagnosis, treatment and prognosis. Salud Pública México. 2008;50:132-41. [ Links ] 29. Maulik PK, Darmstadt GL. [scielo.org.pe]
Epidemiology
Clinical trials are in development regarding the disorder as well, looking to better understand Wieacker syndrome and its possible treatments.[1] Epidemiology[edit] Wieacker syndrome has fewer than 30 confirmed cases, where it usually affects males, but [en.wikipedia.org]
Childhood disability in low- and middle-income countries: Overview of screening, prevention, services, legislation, and epidemiology. Pediatrics. 2007;120 (Supplement 1):S1-55. [ Links ] 30. Mercadante MT, Evans-Lacko S, Paula CS. [scielo.org.pe]
Prevention
Prevention of intellectual and developmental disabilities. Intellect Dev Disabil. 2009; 47(4):320-2. [ Links ] 79. Calderón-González R, Calderón-Sepúlveda RF. Prevention of mental retardation. Rev Neurol. 2003;36(2):184-94. [ Links ] 80. [scielo.org.pe]