Metaphyseal chondrodysplasia, Kaitila type
Metaphyseal chondrodysplasia, Kaitila type
Definition
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.
Also known as metaphyseal chondrodysplasia, Kaitila type — per MONDO