Stickler syndrome
ORPHA:828DiseaseAutosomal dominant, Autosomal recessiveAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)77
Очень частый (80–99%)18
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000308Microretrognathia
HP:0000327Hypoplasia of the maxilla
HP:0000343Long philtrum
HP:0000505Visual impairment
HP:0000506Telecanthus
HP:0000518Cataract
HP:0000541Retinal detachment
HP:0000545Myopia
HP:0002652Skeletal dysplasia
HP:0002829Arthralgia
HP:0003196Short nose
HP:0003312Abnormal form of the vertebral bodies
HP:0004327Abnormal vitreous humor morphology
HP:0005280Depressed nasal bridge
HP:0005930Abnormality of epiphysis morphology
HP:0011800Midface retrusion
Частый (30–79%)35
HP:0000158Macroglossia
HP:0000162Glossoptosis
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000204Cleft upper lip
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000389Chronic otitis media
HP:0000407Sensorineural hearing impairment
HP:0000457Depressed nasal ridge
HP:0000463Anteverted nares
HP:0000483Astigmatism
HP:0000520Proptosis
HP:0000768Pectus carinatum
HP:0000926Platyspondyly
HP:0001166Arachnodactyly
HP:0001252Hypotonia
HP:0001373Joint dislocation
HP:0001519Disproportionate tall stature
HP:0001634Mitral valve prolapse
HP:0002020Gastroesophageal reflux
HP:0002205Recurrent respiratory infections
HP:0002650Scoliosis
HP:0002653Bone pain
HP:0002758Osteoarthritis
HP:0002808Kyphosis
HP:0002857Genu valgum
HP:0003302Spondylolisthesis
HP:0006461Proximal femoral epiphysiolysis
HP:0007992Lattice retinal degeneration
HP:0011003High myopia
HP:0011530Retinal hole
HP:0011675Arrhythmia
HP:0031153Membranous vitreous appearance
HP:0001382Joint hypermobility
Периодический (5–29%)24
HP:0000316Hypertelorism
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000519Developmental cataract
HP:0000554Uveitis
HP:0000618Blindness
HP:0000682Abnormality of dental enamel
HP:0000940Abnormal diaphysis morphology
HP:0001083Ectopia lentis
HP:0001533Slender build
HP:0002827Hip dislocation
HP:0003179Protrusio acetabuli
HP:0003202Skeletal muscle atrophy
HP:0003416Spinal canal stenosis
HP:0004322Short stature
HP:0004326Cachexia
HP:0004349Reduced bone mineral density
HP:0004374Hemiplegia/hemiparesis
HP:0006288Advanced eruption of teeth
HP:0008872Feeding difficulties in infancy
HP:0009804Tooth agenesis
HP:0010290Short hard palate
HP:0010807Open bite
HP:0031154Beaded vitreous appearance
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | France | Class only |
| Prevalence at birth | 1-5 / 10 000 | 12.2 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)