Spondylometaphyseal dysplasia- Sedaghatian type

Overview

Spondylometaphyseal dysplasia, Sedaghatian type: A very rare syndrome characterized by abnormal bone development with short arms and flattened vertebrae. Death usually occurs within days of birth.

Symptoms

* Flattened vertebrae * Short arms * Low blood calcium level * High blood phosphate level * High blood alkaline phosphatase level * Long fibula * Turricephaly * Poor muscle tone * Seizures * Abnormal brain development

Causes

* Flattened vertebrae * Poor muscle tone * Seizures * Short arms