Metaphyseal chondrodysplasia, Kaitila type

Orpha code: 166038OMIM code: 250230

Definicja

Metaphyseal 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.

Disease data
Klasyfikacja

Disease

Kod ORPHA
166038
Kod OMIM
250230
Kod ICD10
Q78.5
Kod ICD11
-

No additional description.

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