Oculofaciocardiodental syndrome
ORPHA:2712Malformation syndromeX-linked dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)43
Очень частый (80–99%)7
HP:0000164Abnormality of the dentition
HP:0000456Bifid nasal tip
HP:0000482Microcornea
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000684Delayed eruption of teeth
HP:0001671Abnormal cardiac septum morphology
Частый (30–79%)15
HP:0000174Abnormal palate morphology
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000275Narrow face
HP:0000343Long philtrum
HP:0000426Prominent nasal bridge
HP:0000677Oligodontia
HP:0000692Tooth malposition
HP:0001169Broad palm
HP:0001765Hammertoe
HP:0002974Radioulnar synostosis
HP:00046912-3 toe syndactyly
HP:0010327Flexion contracture of the 2nd toe
HP:0010339Flexion contracture of the 4th toe
HP:0011090Fused teeth
Периодический (5–29%)21
HP:0000365Hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000501Glaucoma
HP:0000508Ptosis
HP:0000541Retinal detachment
HP:0000612Iris coloboma
HP:0001083Ectopia lentis
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001634Mitral valve prolapse
HP:0001643Patent ductus arteriosus
HP:0002553Highly arched eyebrow
HP:0002566Intestinal malrotation
HP:0002650Scoliosis
HP:0002857Genu valgum
HP:0002967Cubitus valgus
HP:0004209Clinodactyly of the 5th finger
HP:0004969Peripheral pulmonary artery stenosis
HP:0006315Single median maxillary incisor
HP:0008872Feeding difficulties in infancy
HP:0009778Short thumb
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)