Spondyloepimetaphyseal dysplasia joint laxity

Overview

Spondyloepimetaphyseal dysplasia joint laxity: A very rare syndrome characterized by abnormal bone growth involving severe scoliosis and loose joints.

Symptoms

* Loose joints * Severe scoliosis * Cleft palate * Oval face * Prominent eyes * Long upper lip * Small mandible * Blue sclerae * Short fingernails * Spatulate ends of fingers * Kyphosis * Clubfoot * Dislocated hip * Dumbbell-shaped long bones * Abnormal bone development * Respiratory problems * Flat midface

Causes

* Abnormal bone development * Blue sclerae * Cleft palate * Clubfoot * Dislocated hip * Kyphosis * Loose joints * Prominent eyes * Respiratory problems

Treatment

* Joint Health Specialists (Rheumatology): o Rheumatology (Joint Health) o Pediatric Rheumatology (Child Joint Health)