Name: PubCaseFinder
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Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Marden-Walker syndrome

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

Scoliosis

The presence of an abnormal lateral curvature of the spine.

Total: 1

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PMID (PMCID)
27843126	MIXED_SAMPLE	Child
	Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
	Delle Vedove A, Storbeck M, Heller R, Holker I, Hebbar M, Shukla A, Magnusson O, Cirak S, Girisha KM, O'Driscoll M, Loeys B, Wirth B. Am J Hum Genet. 2016;99(5):1206-1216.
	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, ophthalmoplegia, and ptosis.