Arthrogryposis, Distal, with Impaired Proprioception and Touch

Alternative Names

  • DAIPT
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

617146

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18p11.22-p11.21

Description

DAIPT is a neurologic disorder characterized by skeletal contractures and a marked decrease in the ability to perceive touch, vibration or proprioception. Affected individuals also suffer from sensory ataxia, walking difficulties, dysmetria, dysarthria, impaired fine motor skills, areflexia, hypotonia and muscle weakness. Neurological investigations reveal mild sensory axonal neuropathy and reduced amplitude of sensory nerve action potentials. Other symptoms include short stature, neonatal respiratory insufficiency, scoliosis, congenital hip dysplasia, hand and foot deformities, and facial dysmorphia such as a long nose with a wide nasal bridge, a thin upper lip, a high arched palate and myopathic facies.

The condition has an onset in the first decade of life. DAIPT is an autosomal recessive pattern of inheritance and is caused by homozygous or compound heterozygous mutations in the PIEZO2 gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
617146.1Saudi ArabiaFemaleYesYes Lower limb muscle weakness; ScoliosisNM_001378183.1:c.273_279delHomozygousAutosomal, RecessiveMonies et al. 2017
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