Camptomelic syndrome long limb type

Synonyms

1

Overview

Campomelic syndrome is a rare congenital disorder in which multiple anomalies are present. It is characterized by bowing and angular shape of the long bones of the legs, especially the tibia; multiple minor anomalies of the face; cleft palate; other skeletal anomalies such as abnormalities of the shoulder and pelvic area and eleven pairs of ribs instead of the usual twelve; underdevelopment of the trachea; developmental delay in some cases and incomplete development of genitalia in males such that they appear to be females.

Symptoms

• Short stature
• Bowel long leg bones
• Angular-shaped long leg bones
• Abnormal shoulder bones
• Abnormal pelvic bones
• Missing ribs 

Resources

• NIH