Stickler's syndrome

A fairly common progressive disease of connective tissue with onset at birth affecting ears, eyes, and joints. Characterized by stiffness and painful degenerative articular changes, prominence and hyperextensibility of large joints, flat facies, cleft palate, bifid uvula, progressive myopia with a tendency to spontaneous retinal detachment, cataracts. Usually blindness within first decade. There is a roentgenographic picture of mild epiphyseal dysplasia and overtubulation of long bones. Progressive deafness of sensorineural type. The face presents slight micrognathia, slight hypertelorism, and epicanthal folds. Hearing loss may occur.

Both sexes affected. The syndrome is transmitted as an autosomal dominant trait with variable expressivity within and between families, and incomplete penetrance.

We thank Chris Dorge for correcting an error in the original entry.

Weissenbacher-Zweymüller Syndrome
Was originally known as Pierre Robin Syndrome with Fetal Chondrodysplasia. It has more severe skeletal effects and delayed neonatal development, but may lack the eye and joint problems of Stickler's syndrome. It is recessive, not dominant.
See separate entry for Weissenbacher-Zweymüller syndrome.

Wagner's Syndrome
Also known as hyaloideoretinal degeneration of Wagner. There may be more than one type of Wagner syndrome, so differentiation from Stickler's syndrome is difficult. See under Hans Wagner, Swiss ophthalmologist, 1905-1989.

• B. David:
  Ueber einen dominanten Erbgang bei einer polyopen enchondralen Dysostose typ Pfaundler-Hurler.
  Zeitschrift für Orthopädie unde ihre Grenzgebiete, Stuttgart, 1953, 84: 657-660.
• G. Weissenbacher, E. Zweymüller:
  Gleichzeitiges Vorkommen eines Syndroms von Pierre Robin und einer fetalen Chondrodysplasie.
  Monatsschrift für Kinderheilkunde, Berlin, 1964, 112: 315-317.
• G. B. Stickler, P. G. Belau, F. J. Farrel, J. D. Jones, D. G. Pugh, A. G. Steinberg and L. E. Ward:
  Hereditary progressive arthro-ophthalmopathy.
  Mayo Clinic Proceedings, Rochester, Minnesota 1965, 40: 433-455.
• G. B. Stickler, D. G. Pugh:
  Hereditary progressive arthroophthalmopathy: II Additional observations of vertebral abnormalities, a hearing defect, and a report of a similar case.
  Mayo Clinic Proceedings, Rochester, Minnesota, 1967, 42: 495-500.
• M.M. Cohen, W.H. Knobloch, Robert James Gorlin:
  A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia (Cervenka syndrome).
  Birth Defects Original Article Series, New York, 1971, 7 (7): 83-86.