Kniest dysplasia(redirected from Swiss cheese cartilage dysplasia)
Kniest dysplasiaA rare subtype of collagenopathy (types II and XI) characterised by defective bone growth with short-trunk, short-limb dwarfism, painful enlarged joints leading to arthritis, kyphoscoliosis, lumbar lordosis, flattened vertebral bones (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, clubfoot, and defects in vision and hearing.
[Wilhelm Kniest, 20th-cent. Ger. pediatrician]
An autosomal-dominant collagen disorder that causes dwarfism. Findings include a short trunk, prominent and stiff joints, flattened face, eye abnormalities, deafness, inguinal hernias, hip dislocation, cleft palate, and talipes equinovarus. Patients develop severe dorsal kyphosis or kyphoscoliosis and lumbar lordosis. Synonym: Swiss cheese cartilage syndrome