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

More general terms

• dwarfism (nanism)
• skeletal dysplasia
• osteochondrodysplasia

Database

• OMIM: https://mirror.omim.org/entry/156550