Oculocerebrofacial syndrome, Kaufman type
ORPHA:2707Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)44
Очень частый (80–99%)16
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000582Upslanted palpebral fissure
HP:0000587Abnormal optic nerve morphology
HP:0000648Optic atrophy
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001833Long foot
HP:0002094Dyspnea
HP:0002098Respiratory distress
HP:0002878Respiratory failure
HP:0005469Flat occiput
Частый (30–79%)25
HP:0000154Wide mouth
HP:0000159Abnormal lip morphology
HP:0000177Abnormality of upper lip
HP:0000233Thin vermilion border
HP:0000275Narrow face
HP:0000276Long face
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000384Preauricular skin tag
HP:0000482Microcornea
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000545Myopia
HP:0000581Blepharophimosis
HP:0000639Nystagmus
HP:0000691Microdontia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002223Absent eyebrow
HP:0002705High, narrow palate
HP:0010547Muscle flaccidity
HP:0011968Feeding difficulties
HP:0012745Short palpebral fissure
HP:0045074Thin eyebrow
Периодический (5–29%)3
HP:0001135Chorioretinal dystrophy
HP:0001139Choroideremia
HP:0008665Clitoral hypertrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | 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)