Stickler syndrome


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he·red·i·tar·y pro·gress·ive ar·thro·oph·thal·mop·a·thy

a skeletal dysplasia associated with multiple dysplasia of the epiphyses, overtubulation of long bones with metaphysial widening, flattened vertebral bodies, pelvic bone abnormalities, hypermobility of joints, cleft palate, progressive myopia, retinal detachment, and deafness. Autosomal dominant inheritance caused by mutation in either the COL2A1 gene on 12q, COL11A1 gene on 1p or COL11A2 gene on 6p.
Synonym(s): Stickler syndrome

he·red·i·tar·y pro·gres·sive arth·ro·oph·thal·mop·a·thy

(hĕr-ed'i-tar-ē prŏ-gres'iv ahr'thrō-of-thal-mop'ă-thē)
A skeletal dysplasia associated with multiple dysplasia of the epiphyses, overtubulation of long bones with metaphysial widening, flattened vertebral bodies, pelvic bone abnormalities, hypermobility of joints, cleft palate, progressive myopia, retinal detachment, and deafness. Autosomal dominant inheritance caused by mutation in either the COL2A1 gene on 12q, COL11A1 gene on 1p, or COL11A2 gene on 6p.
Synonym(s): Stickler syndrome.

Stickler syndrome

(stik'ler, shtik')
[Gunnar B. Stickler, German-born U.S. pediatrician 1925–]
A dominantly inherited disorder of collagen, characterized by a predisposition to myopia and retinal detachment, flattened facial features, cleft palate, a small jaw, joint disease, and hearing deficits. It is more common in Europe than in the U.S.
Synonym: hereditary arthro-ophthalmopathy

Stickler,

Gunnar B., U.S. pediatrician, 1925–.
Stickler syndrome - Synonym(s): hereditary progressive arthroophthalmopathy
References in periodicals archive ?
Development is usually normal in Stickler syndrome.
Visual complications of Stickler syndrome in paediatric patients with Robin sequence.
The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.
Genetics and hearing loss: a review of Stickler syndrome.
The diagnosis given to you regarding your daughter's condition was not wrong, it was just incomplete; the clinical findings that identified the Stickler syndrome had not yet developed.
Besides myopia (near-sightedness) and later retinal detachment, cataracts are more common in Stickler syndrome than in the general population.
The geneticist who evaluated your daughter should have explained that the Stickler syndrome is inherited as an autosomal dominant condition.
Snowflake degeneration is included in the spectrum of diseases with Wagner and Stickler syndromes, however, it is clinically and genetically unique.
While prophylactic treatment is not recommended for any of these degenerations, patients with suspected Snowflake degeneration, Wagner, or Stickler syndromes should, nevertheless, be initially referred for evaluation to classify their disease and for genetic testing.
Colin was just a few months old when he was diagnosed with Stickler Syndrome, which progressively attacks tissue joining bones, eyes and ears.
Wendy Hughes, who runs the UK support group for Stickler Syndrome sufferers, said it was unusual for victims to become both deaf and blind.