Conditions / Syndrome

congenital heart defects, hamartomas of tongue, and polysyndactyly

info ยท Syndrome

A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15.

Signs and symptoms

  • Postaxial polydactyly type A
  • Feeding difficulties
  • Coarctation of aorta
  • 2-3 toe syndactyly
  • Hamartoma of tongue
  • Broad hallux
  • Subvalvular aortic stenosis
  • Complete atrioventricular canal defect
  • 2-3 finger cutaneous syndactyly
  • Postaxial hand polydactyly

Also known as: CHDTHP; Ostravik-Lindemann-Solberg syndrome; heart defect-tongue hamartoma-polysyndactyly syndrome