Cat-eye syndrome
ORPHA:195Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)20
Очень частый (80–99%)3
HP:0000384Preauricular skin tag
HP:0002023Anal atresia
HP:0004467Preauricular pit
Частый (30–79%)14
HP:0000126Hydronephrosis
HP:0000316Hypertelorism
HP:0000494Downslanted palpebral fissures
HP:0000567Chorioretinal coloboma
HP:0000612Iris coloboma
HP:0000772Abnormal rib morphology
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001385Hip dysplasia
HP:0001511Intrauterine growth retardation
HP:0004322Short stature
HP:0008678Renal hypoplasia/aplasia
HP:0030680Abnormal cardiovascular system morphology
HP:0100542Abnormal localization of kidney
Периодический (5–29%)3
HP:0000078Abnormality of the genital system
HP:0000365Hearing impairment
HP:0000568Microphthalmia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.35 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)