SMDCF is a skeletal dysplasia. 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. Corner fractures-like lesions and enlargement of the metaphyses, developmental coxa vara, bowing of the tibia, shortened long bones, scoliosis, and vertebral anomalies can be seen on radiographs of individuals with SMDCF. Leg length discrepancy, pectus carinatum and genu valgum/varum are also described. Some individuals present with vision impairment and glaucoma. Dysmorphic facial features and low bone mineral density with fractures had been described in some patients.
FN1-SMDCF