Rhizomelic chondrodysplasia punctata information Diseases Database

Description: "An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata." Rhizomelic chondrodysplasia punctata may cause or feature the following ... (sorted by category). You may also display these sorted alphabetically. Symptoms and Signs Cataracts Disproportionate short stature Ichthyosis Saddle nose deformity Congenital conditions Congenital anomaly of cartilage Psychiatric conditions Learning disability