Clinical Characteristics

SMDCF is a skeletal dysplasia which means that bone does not develop normally. Individuals present with short stature (short limbs and/or short trunk) and a waddling gait in childhood. Chronic pain and limited joint mobility can arise. Bone anomalies can be seen on radiographs of individuals with SMDCF like the classical corner fracture-like lesions. Some individuals present with vision impairment and glaucoma. Dysmorphic facial features (abnormal differences in face structure) and weak bones with fracture can occur.