Connective tissue dysplasia Spellacy type
Overview
A very rare syndrome caused by an inherited collagen disorder and characterized by skin abnormalities, skeletal and eye anomalies and joint problems.
Symptoms
* Thin skin * Skin telangiectases * Joint abnormalities * Shallow skin ulcers * Kyphoscoliosis * Hypermobile joint * Restricted joint mobility * Dislocated hips at birth * Sun sensitivity * Iris abnormalities * Iris atrophy * Saddle-nose * Cafe-au-lait spots
Diagnosis
signs and symptoms of Connective tissue dysplasia, Spellacy type may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Connective tissue dysplasia, Spellacy type symptoms.
Resources
* "cafe-au-lait" spots: Where there are macules of a light brown colour located on the skin * Kyphoscoliosis: Outward curvature of the spine at the back causing hunching or Dowager's hump * Saddle nose: Facial deformity from collapse of the nasal bridge * Stiff joints: Reduced mobility or movement of the joints * Sun sensitivity: Skin sensitivity to the sun * Thin skin: A condition which is characterized by skin which is thin