KEGG   DISEASE: Parastremmatic dwarfism
Entry
H02183                      Disease                                
Name
Parastremmatic dwarfism;
Parastremmatic dysplasia
Description
Parastremmatic dwarfism is a rare disorder, caused by TRPV4 mutations. Clinical symptoms include shortening of the trunk because of platyspondyly and scoliosis, as well as flexum deformity in both knees. The term "parastremmatic" is used from the Greek parastremma (distorted limb).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02183  Parastremmatic dwarfism
Gene
TRPV4 [HSA:59341] [KO:K04973]
Other DBs
ICD-11: LD24.3
MeSH: C537172
OMIM: 168400
Reference
PMID:20503319
  Authors
Nishimura G, Dai J, Lausch E, Unger S, Megarbane A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A
  Title
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
  Journal
Am J Med Genet A 152A:1443-9 (2010)
DOI:10.1002/ajmg.a.33414
Reference
PMID:4992387
  Authors
Langer LO, Petersen D, Spranger J
  Title
An unusual bone dysplasia: parastremmatic dwarfism.
  Journal
Am J Roentgenol Radium Ther Nucl Med 110:550-60 (1970)
DOI:10.2214/ajr.110.3.550
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