See Also: chondrodysplasia punctata, rhizomelic(medicine)
chondrodysplasia punctata(medicine)
chondrodysplasia(medicine)
Chondrodysplasia(health)
Herbal medicine (botanical medicine, herbology, phytomedicine)(health)
Cooperia punctata(medicine)
acne punctata(medicine)
psoriasis punctata(medicine)
keratosis punctata(medicine)
chondrodystrophia congenita punctata(medicine)

chondrodysplasia punctata, rhizomelic (medicine)


chondrodysplasia punctata, rhizomelic


An autosomal recessive form of chondrodysplasia punctata characterised by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondrial bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata.