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metatropic dwarfism type 2 (Kniest dysplasia, Kniest syndrome)
Genetics:
- associated with defects in COL2A1
Clinical manifestations:
- moderately severe chondrodysplasia phenotype
- short trunk & extremities
- mid-face hypoplasia
- cleft palate
- myopia
- retinal detachment
- hearing loss
General
dwarfism (nanism)
skeletal dysplasia
osteochondrodysplasia
Database Correlations
OMIM 156550
References
OMIM :accession 156550