Parastremmatic dysplasia

Last revised by Daniel J Bell on 11 Oct 2021

Parastremmatic dysplasia is a rare skeletal dysplasia that is characterized by shortening of the trunk, joint contractures, limb deformities, a short stiff neck, malformation of the pelvis, kyphosis of thoracic spine and urinary incontinence.

Parastremmatic dysplasia belongs to a group of autosomal dominant skeletal dysplasias, all of which have in common a mutation of the transient receptor potential cation channel, subfamily V, member 4 (TRPV4) 1-4.

  • expanded metaphysis and epiphysis of long bones
  • distorted and flattened vertebrae
  • platyspondyly
  • scoliosis of spine
  • irregular patches of sclerosis giving flocculent appearance

The term "parastremmatic" derives from the Greek word παραστρεμμα, meaning "distorted limb" and was first suggested by Langer et al. in 1970 5.

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