Arthrogryposis

Autosomal dominant

1/3,000²

Major clinical symptoms for arthrogryposis include the following ^{1, 2}:

• Upper limbs:
  • camptodactyly (permanent banding of one or more fingers)
  • hypoplastic and/or absent flexion creases
  • overriding fingers
  • ulnar deviation at the wrist

• Lower limbs:
  • talipes equinovarus (clubfoot)
  • vertical talus (rocker bottom feet)
  • other foot deformities (calcaneovalgus  talipes, metatarsus varus)

• ≥2 above major symptoms in an individual
• ≥1 of the major symptoms in an individual with an affected family member (with ≥2 symptoms)
• Known pathogenic variant in one of the following genes: TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2, PIEZO2, ECEL1, DOK7, RAPSN

There is no cure for arthrogryposis but different management and interventions can relieve symptoms ^{1, 2}

• Surgical correction of the contractures
• Complex multi-disciplinary treatment involving pediatricians, physiotherapists, geneticists, orthopedic surgeons, and orthotic specialists. 

• Osteochondrodysplasias
• Holt-Oram syndrome
• Tuberous sclerosis
• Otopalatodigital syndrome
• Nemaline myopathy
• Oculodentodigital syndrome
• Ophthalmomandibulomelic dysplasia

To confirm/establish the diagnosis, CENTOGENE offers the following tests:

• Arthrogryposis NGS Panel which includes sequencing of the genes TPM2, MYBPC1, MYH3, TNNT3, TNNI2, MYH8, FBN2, PIEZO2, ECEL1, DOK7, RAPSN
• Arthrogryposis NGS Panel + CNV which includes sequencing and additionally detection of large deletions and duplications from the NGS data

• Individuals with a positive family history of distal arthrogryposis.
• Individuals that meet the diagnostic criteria for distal arthrogryposis (regardless of family history).

Why is this test good for the patient?

Confirmation of a clinical diagnosis through genetic testing of Arthrogryposis can allow for genetic counseling and may direct medical management.