Ankyloglossia heterochromia clasped thumbs

Overview

An extremely rare inherited condition characterized by clasped thumbs (adducted thumb), different colored eyes and a tongue anomaly where the tongue has limited mobility due to the fact that it is excessively attached to the floor of the mouth.

Symptoms

  • Different colored eyes
  • Clasped thumbs
  • Tongue-tied
  • Limited tongue mobility
  • Feeding problems

Causes

  • 18-Hydroxylase deficiency - poor feeding
  • 2-methylbutyryl-coenzyme A dehydrogenase deficiency - poor feeding
  • 3 alpha methylcrotonyl-Coa carboxylase 1 deficiency - feeding difficulties
  • 3 alpha methylcrotonyl-coa carboxylase 2 deficiency - feeding difficulties
  • 3-methylcrotonyl-CoA carboxylase deficiency - feeding difficulties