Oculoskeletodental syndrome
ORPHA:557003DiseaseAutosomal recessiveAdolescent, Adult, Childhood
Ассоциированные гены1
Фенотипы (HPO)38
Частый (30–79%)14
HP:0004322Short stature
HP:0011020Abnormality of mucopolysaccharide metabolism
HP:0012758Neurodevelopmental delay
HP:0000121Nephrocalcinosis
HP:0000164Abnormality of the dentition
HP:0000280Coarse facial features
HP:0000365Hearing impairment
HP:0000501Glaucoma
HP:0000519Developmental cataract
HP:0000599Abnormality of the frontal hairline
HP:0001297Stroke
HP:0001328Specific learning disability
HP:0001999Abnormal facial shape
HP:0003072Hypercalcemia
Периодический (5–29%)24
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000431Wide nasal bridge
HP:0000677Oligodontia
HP:0000691Microdontia
HP:0002300Mutism
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0002901Hypocalcemia
HP:0002942Thoracic kyphosis
HP:0003090Hypoplasia of the capital femoral epiphysis
HP:0003307Hyperlordosis
HP:0005280Depressed nasal bridge
HP:0006297Enamel hypoplasia
HP:0006989Dysplastic corpus callosum
HP:0007042Focal white matter lesions
HP:0009237Short 5th finger
HP:0009928Thick nasal alae
HP:0010663Abnormality of thalamus morphology
HP:0010761Broad columella
HP:0030084Clinodactyly
HP:0100255Metaphyseal dysplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)