Chondrodystrophia calcarea is a rare hereditary skeletal disease characterized by impaired growth and ossification of cartilage tissue, leading to dwarfism and skeletal deformation.
The disease was first described in 1915 by German doctors K. Conradi and W. Hünermann, after whose names Conradi-Hünermann syndrome is sometimes called.
The main manifestations of calcific chondrodystrophy:
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Dwarf growth caused by impaired growth of cartilage tissue. The height of adults does not exceed 100-130 cm.
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Skeletal deformities - curvature of the limbs, chest, spine.
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Premature ossification of cartilage tissue (calcification), starting at 2-4 years.
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Frequent fractures and dislocations due to brittle bones.
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Craniofacial anomalies: enlarged forehead, wide nose, small lower jaw.
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Mental retardation (in some patients).
Treatment is mainly symptomatic and orthopedic - surgical correction of deformities. The prognosis depends on the severity of the skeletal lesion.
Chronic progressive degenerative-dystrophic disease of the skeleton, developing in childhood and adolescence as a result of calcium deposition in the fibrous membrane of cartilage and multiple extra-articular formations of cartilage tissue: short chords (strings) of the patella, intervertebral discs, causing damage to the joint, the formation of intra-articular exostosis (chondroma) and less often – osteophytes and joint deformation.