Diastrophic Dysplasia

• short-limbed dwarfism
• Autosomal Recessive inheritance
• deficiency in sulfate transport protein
• risk of quadriplegia

Diastrophic Dysplasia Clinical Evaluation

• “twisted” dwarf
• cleft palate
• joint contractures
• cauliflower ears
• hitchhiker thumb
• rigid clubfoot
• cervical kyphosis
• AA instability