Stickler syndrome

(redirected from Stickler syndrome, type 2)

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