Clinical Characteristics

Mutations in the EOGT gene may cause the following signs and symptoms:

  • Congenital absence of skin (usually of the scalp) with or without the absence of underlying structures such as bone
  • Absence or underdevelopment of the toes
  • Absence or underdevelopment of the toenails
  • Fusion of the fingers or toes
  • Heart malformations (rare)
  • Brain malformations (rare)  
  • Umbilical hernia (part of the bowel pushes through the abdominal wall near the belly bottom) (rare)
  • Cutis marmorata (reddish or purplish net-like pattern on the skin caused by a disorder of the blood vessels) (rare)