Jorgenson Lenz syndrome
Overview
a rare familial syndrome with autosomic dominant type inherited and variable expressivity in four generations.
Symptoms
* Hand bone abnormalities * Mental retardation * Dislocated elbow * Epicanthic folds * Restricted joint mobility * Short stature * Vertebral abnormalities * Protruding jaw * Asymmetrical face * Blepharophimosis * Droopy eyelid * Fused forearm bones * Small head * Small upper eyelid * Flattened nose bridge * Drooping eyelids
Causes
* Michels syndrome * Dubowitz syndrome * Marden-Walker syndrome * Ohdo blepharophimosis syndrome * Blepharophimosis syndrome * Schwartz-Jampel-Aberfeld syndrome