Oculodentodigital dysplasia
ORPHA:2710Malformation syndromeAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)83
Очень частый (80–99%)14
HP:0000175Cleft palate
HP:0000366Abnormality of the nose
HP:0000430Underdeveloped nasal alae
HP:0000446Narrow nasal bridge
HP:0000482Microcornea
HP:0000598Abnormality of the ear
HP:0000670Carious teeth
HP:0000682Abnormality of dental enamel
HP:0001770Toe syndactyly
HP:0004209Clinodactyly of the 5th finger
HP:0006101Finger syndactyly
HP:0006323Premature loss of primary teeth
HP:0009804Tooth agenesis
HP:0010761Broad columella
Частый (30–79%)42
HP:0000377Abnormal pinna morphology
HP:0000011Neurogenic bladder
HP:0000161Median cleft lip
HP:0000187Broad alveolar ridges
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000405Conductive hearing impairment
HP:0000463Anteverted nares
HP:0000478Abnormality of the eye
HP:0000501Glaucoma
HP:0000504Abnormality of vision
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000545Myopia
HP:0000601Hypotelorism
HP:0000648Optic atrophy
HP:0000944Abnormal metaphysis morphology
HP:0001231Abnormal fingernail morphology
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001324Muscle weakness
HP:0001347Hyperreflexia
HP:0001597Abnormality of the nail
HP:0002212Curly hair
HP:0002217Slow-growing hair
HP:0002313Spastic paraparesis
HP:0002514Cerebral calcification
HP:0003103Abnormal cortical bone morphology
HP:0003196Short nose
HP:0004437Cranial hyperostosis
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0008070Sparse hair
HP:0008499High hypermetropia
HP:0009843Aplasia/Hypoplasia of the middle phalanges of the hand
HP:0011342Mild global developmental delay
HP:0030084Clinodactyly
HP:0100490Camptodactyly of finger
HP:0100774Hyperostosis
Периодический (5–29%)27
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000525Abnormality iris morphology
HP:0000582Upslanted palpebral fissure
HP:0000639Nystagmus
HP:0000679Taurodontia
HP:0000889Abnormality of the clavicle
HP:0000940Abnormal diaphysis morphology
HP:0000982Palmoplantar keratoderma
HP:0001156Brachydactyly
HP:0001161Hand polydactyly
HP:0001177Preaxial hand polydactyly
HP:0001249Intellectual disability
HP:0001537Umbilical hernia
HP:0001629Ventricular septal defect
HP:0001943Hypoglycemia
HP:0002213Fine hair
HP:0002299Brittle hair
HP:0003067Madelung deformity
HP:0003312Abnormal form of the vertebral bodies
HP:0010109Short hallux
HP:0011675Arrhythmia
HP:0030680Abnormal cardiovascular system morphology
HP:0100335Non-midline cleft of the upper lip
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 243 | 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)