metaphyseal chondrodysplasia, Kaitila type
MONDO:0009594Mondo
Findings
No curated finding names metaphyseal chondrodysplasia, Kaitila type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009594), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of