Conditions / Syndrome

Adams-Oliver syndrome 3

info ยท Syndrome

An Adams-Oliver syndrome that has_material_basis_in heterozygous mutation in the RBPJ gene on chromosome 4p15.

Signs and symptoms

  • Microcephaly
  • Mild intellectual disability
  • Aplasia cutis congenita
  • Short distal phalanx of finger
  • Short 5th toe
  • Short palm
  • Short palpebral fissure
  • 2-3 toe syndactyly
  • Delayed gross motor development
  • Short metatarsal