- Kniest's disease
- Kniest’s dwarfism
- Kniest’s dysplasia
- Morbus Kniest
A congenital form of chondrodystrophy with severe dwarfism and kyphoscoliosis. The symptoms consist of peculiar facies with midfacial hypoplasia, saddle nose, and occasional shallow orbits with protruding eyes; short trunk with dorsal kyphosis, lumbar lordosis, and, less frequently, thoracic scoliosis in the later course of the disease; short and broad thorax with sternal protrusion; short arms and legs with prominent joints and restricted joint mobility; cleft palate; hearing loss; occasional myopia; retinal detachment; and club feet. Some manifestations, such as short stature, prominent knees, cleft palate, and/or club feet, may be present at birth, but the full expression usually occurs by the age of 3 years. Intelligence normal. Inheritance is autosomal dominant X-linked.
- W. Kniest:
Zur Abgrenzung der Dysostosis enchondralis von der Chondrodystrophie.
Zeitschrift für Kinderheilkunde, Berlin, 1952, 70: 633-640.
Kniest Syndrom. With B. Leber.
Monatsschrift für Kinderheilkunde, Berlin, 1977, 125: 970-973.
- J. Spranger, A. Winterpacht, B. Zabel:
Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.
American Journal of Medical Genetics, New York, 69: 79-84, 1997.
- C.D. Siggers, D.L. Rimoin, J.P. Dorst, S.B. Doty, B.R. Williams, D.W. Hollister, R, Silberberg, R.E. Cranley, R.L. Kaufman and V.A. McKusick:
The Kniest syndrome.
Birth Defects Original Article Series, New York, 1974, 10(9): 193-208. At the time of his report, Kniest was chief resident of the Children's Hospital of the University of Jena in Thuringia. Spranger et al in 1997 reported the same patient, then aged 50 years and severely handicapped with short stature, restricted joint mobility, and blindness, but was mentally alert and leading an active life.