Chondroectodermal dysplasia syndrome
Chondroectodermal dysplasia syndrome, also known as Ellis-van Creveld congenital malformation syndrome, congenital cartilage calcification disorder heart disease syndrome, chondroectodermal dysplasia syndrome, etc., is an autosomal recessive genetic disease. Due to ectodermal gene mutation or environmental influence, the differentiation deviates from the normal, resulting in a proliferation defect of the long bone growth plate. Patients have a dwarf appearance at birth, manifesting as short-limb dwarfism, and may have congenital heart disease and genital malformations.
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Site of disease:
Bone whole body -
Infectious :
Not contagious -
Frequent population:
More common in children -
Related symptoms:
Moderate mental retardation Incomplete calcification of the epiphyseal ends of long bones Abnormal teeth Abnormal nails Abnormal hair -
Concurrent disease:
Related Drugs
Alfacalcidol Soft Capsules
Indication: 1. Rickets and osteomalacia. 2. Renal osteodystrophy. 3. Osteoporosis. 4. Hypoparathyroidism.
Related Ingredients