Aplasia/hypoplasia of pelvis- femur- fibula- and ulna with abnormal digits and nails

Overview

A rare syndrome characterized by the underdevelopment or absence of the pelvis, thigh bone, shin bone and ulna (forearm bone) as well as digital and nail abnormalities.

Symptoms

  • Underdeveloped pelvis
  • Underdeveloped thigh bone
  • Underdeveloped shin bone
  • Underdeveloped ulna
  • Absent ulna
  • Absent thigh bone
  • Absent shin bone
  • Digital abnormalities
  • Abnormal nails
  • Absent nails