Spondyloepimetaphyseal dysplasia with hypotrichosis
Overview
Spondyloepimetaphyseal dysplasia, hypotrichosis: An inherited bone growth disorder characterized by short stature, bone abnormalities and vision problems. An additional feature of this condition is the reduced amount of hair (hypotrichosis). The bone abnormalities are due to a genetic mutation that affects the development of bone and connective tissue.
Symptoms
* Mild short stature * Mild limb shortening * Sparse hair * Metaphyseal flaring * Metaphyseal irregularities * Delayed epiphyseal calcification * Irregular epiphyseal calcification * Eye problems * Severe nearsightedness * Prominent sternum * Impaired breathing * Enlarged liver * Enlarged spleen * Protruding abdomen * Delayed growth * Delayed motor milestones * Lax joints * Inability to fully extend elbows * Coxa vara * Knock-knee * Lordosis * Hemangioma * Hernia * Foot malformations * Metaphyseal irregularities * Patchy osteosclerosis of the ulna * Patchy osteosclerosis of the fibula * Patchy osteopenia maximal of the ulna * Patchy osteopenia maximal of the ulna
Causes
* Delayed growth * Enlarged liver * Enlarged spleen * Eye problems * Impaired breathing * Knock-knee * Lordosis * Prominent sternum * Protruding abdomen * Sparse hair