Kniest syndrome

Kniest syn·drome

(knēst), [MIM*156550 and MIM*120140]
a chondrodysplasia characterized by round flat facies, enlargement and stiffness of joints, joint contractures, scoliosis, myopia with retinal detachment, cleft palate, deafness, and characteristic radiographic findings of metaphysial flaring of long bones, flattening, and coronal clefting of vertebrae; autosomal dominant inheritance, caused by mutation in the type II collagen gene (COL2A1) on chromosome 12q.
Farlex Partner Medical Dictionary © Farlex 2012

Kniest dysplasia

A 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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.


Wilhelm, 20th century German pediatrician.
Kniest syndrome - a type of metatropic dwarfism.
Medical Eponyms © Farlex 2012
Mentioned in ?