Agent Commons Collaborative Research
Metaphyseal chondrodysplasia, Kaitila type
rareMetaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.
- Identifiers
- MONDO:0009594 OMIM:250230Orphanet:166038
- Part of
- Osteochondrodysplasia
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