"Marden–Walker syndrome"

Analysis of Marden-Walker Syndrome association with Arthrogryposis: A Systematic Review of Case Reports PROSPERO International prospective register of systematic reviews Print | PDF PROSPERO This information has been provided by the named contact for this review. CRD has accepted this information in good faith and registered the review in PROSPERO. The registrant confirms that the information

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5. Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and congenital contractures of the hands and feet. Exome sequencing of five GS-affected families identified mutations in piezo-type mechanosensitive ion channel component 2 (PIEZO2) in each family. Sanger sequencing revealed PIEZO2 mutations in five of seven additional families studied (for a total of 10/12 [83%] individuals), and nine families had an identical c.8057G>A (p.Arg2686His) mutation. The phenotype of GS overlaps with distal arthrogryposis type 5 (DA5) and Marden-Walker syndrome (MWS). Using molecular inversion probes for targeted sequencing to screen PIEZO2, we

-terminal and central region of the gene, leading to nonsense-mediated transcript decay and consequently to lack of PIEZO2 protein. In contrast, heterozygous gain-of-function missense mutations, mainly localized at the C terminus, cause dominant distal arthrogryposis 3 (DA3), distal arthrogryposis 5 (DA5), or Marden-Walker syndrome (MWKS), which encompass contractures of hands and feet, scoliosis

type 2. Other differential diagnosis should include Freeman Sheldon and Marden Walker syndrome and, in cases with minimal skeletal abnormalities, myotonic disorders ( including myotonia congenita, myotonia permamens, and myotonic dystrophy).Genetic counselingTransmission is autosomal recessive. Genetic counseling should be offered to affected families, informing them that the risk of disease

Marden-Walker syndrome Orphanet: Marden Walker syndrome * * * * * * Help * Print * Contact us * * EN * FR * ES * DE * IT * PT * NL * PL * CS Menu * Rare diseases * Search * Clinical Signs and Symptoms * Classifications * Genes * Disability * Encyclopaedia for patients * Encyclopaedia for professionals * Emergency guidelines * Orphan : Autosomal recessive * Age of onset: Infancy, Neonatal * * ICD-10: Q87.0 * OMIM: 248700 * UMLS: C0796033 * MeSH: C535910 * GARD: 6973 * MedDRA: -SummaryEpidemiologyThe prevalence is still unknown but to date between 30-50 cases have been described in the world literature.Clinical descriptionThe typical age of onset lies in the neonatal or infancy period and clinically Marden-Walker syndrome (MWS

Novel findings in the Marden-Walker syndrome. Reports about the Marden-Walker syndrome mainly consist of sporadic cases. We describe a 14-year-old girl with the Marden-Walker syndrome who presented with a huge scalp hematoma. The case and the corresponding images demonstrate an association with a defective hemostasis, skin hyperlaxity, and impaired wound healing.

Two brothers with the Marden-Walker syndrome: case report and review

The Marden-Walker syndrome. The characteristic facies, joint contractures, muscular hypotonia, and growth and developmental delay of the Marden-Walker syndrome were present in a 19-month-old boy. Extensive evaluation of the neuromuscular system failed to identify a specific abnormality. Electromyography was normal with low amplitude. Light and electron microscopy of a skeletal muscle biopsy