Stickler syndrome type 4 (Q87056): Difference between revisions
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Síndrome de Stickler autossômica recessiva é um tipo raro de síndrome de Stickler, encontrada em uma família até o momento, causada por uma mutação no gene COL9A1 e, como outras formas herdadas de forma dominantes da doença, manifestando-se com sintomas oftalmológicos (miopia, descolamento de retina e catarata), orofaciais (micrognatia, hipoplasia da face média e fenda palatina), auditivos (perda auditiva neurossensorial) e articulares (displasia epifisária). | |||
| description / en | description / en | ||
Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome, found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with ophthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms | |||
Revision as of 12:37, 15 August 2026
Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome, found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with ophthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1735024561 |
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| English | Stickler syndrome type 4 |
Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome, found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with ophthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms |
