Spondylometaphyseal dysplasia- X-linked

Overview

Spondylometaphyseal dysplasia, X-linked: A rare disorder characterized by spine and long bone abnormalities and facial anomalies. The disorder is inherited in a X-linked manner which means that males exhibit the full extent of the symptoms whereas female carriers often have only mild symptoms.

Symptoms

* Short stature * Breathing problems * Coarse facial appearance * Wide-set eyes * Flat nose bridge * Wide nose bridge * Antevereted nostrils * Strabismus * Searching nystagmus * Knee contractures * Hip contractures * Hyperextensible fingers * Severe kyphosis * Mild scoliosis * Pigeon chested * Enlarged joints * Mildly retarded psychomotor development * Speech impairment * Flattened vertebrae * Abnormal ossification of long bones * Abnormal ossification of iliac crests * Hardening of base of skull bone * Mental retardation * Stubby fingers * Stubby fingers * Short fingernails * Waddling gait

Causes

* Breathing problems * Coarse facial appearance * Flat nose bridge * Flattened vertebrae * Mental retardation * Short stature * Speech impairment * Strabismus * Waddling gait * Wide-set eyes