This condition is inherited in an X-linked recessive manner.
Wieacker Syndrome or Wieacker-Wolff syndrome is a rare, severely disabling, genetic disorder. It is an X-linked recessive disorder and thus affects mostly males.
The condition is characterized by contracture of the lower joints, muscle atrophy, impaired facial muscles, mental retardation, and syndromic facies.[1][2] Heterozygous females may show mild signs of the disease.
Contents
1Genetics
2Diagnosis
3Treatment
4Epidemiology
5References
6External links
Genetics
Wieacker syndrome is caused by a mutation in ZC4H2 on the X chromosome (Xq13-q21).[2]
Diagnosis
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Treatment
Treatment is supportive in nature. There are no effective disease-modifying therapies.[2]
…reaction with eosinophilia and systemic symptoms (DRESS) in European and Asian patients but shows a much weaker association with SJS/TEN . HLA-A*24:02 – HLA-A*24:02 has been identified as an additional potential…
…patients with an estimated glomerular filtration rate (eGFR) <60 mL/min/1.73 m2 and suggest (a weaker recommendation) statin therapy for patients with CKD and eGFR ≥60 mL/min/1.73 m2 if they are …
…surfaces is the medial tibial condyle, while the lateral tibial condyle is a relatively thinner and weaker portion of the joint. Separating the medial from the lateral tibial condyle is the tibial spine (intercondylar…
…surfaces is the medial tibial condyle, while the lateral tibial condyle is a relatively thinner and weaker portion of the joint. The anatomy of the knee is reviewed in detail separately. Separating the…
…the thicker of the two articular surfaces, and the lateral tibial condyle, a relatively thinner and weaker portion of the joint. Separating the medial from the lateral condyle is the intercondylar eminence…
English Journal
Wieacker-Wolff syndrome with associated cleft palate in a female case.
Godfrey ND, Dowlatshahi S, Martin MM, Rothkopf DM.
American journal of medical genetics. Part A. 2018 01;176(1)167-170.
Wieacker-Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X-linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay cause
ZC4H2 deletions can cause severe phenotype in female carriers.
Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C.
American journal of medical genetics. Part A. 2017 May;173(5)1358-1363.
ZC4H2 is involved in human brain development, and, if mutated, can be responsible for a rare X-linked disorder, originally presented in literature as Wieacker-Wolff syndrome and Miles-Carpenter syndrome. In males, severe intellectual disability is associated with variable symptoms of central and per
Symptoms of Wieacker syndrome include stiffening of the muscles and joints of the feet (contracture), slowly progressive atrophy of certain muscles of the legs and arms, and mild intellectual disability. Other symptoms are ...
Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are ...
Wieacker-Wolff syndrome An extremely rare (six cases in the world literature) X-linked condition (OMIM:314580) condition characterised by malformations of the feet (pes cavus, pes equinovarus, flexed toes), progressive contractures ...