Rhombencephalosynapsis
ORPHA:59315Malformation syndromeNot applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)30
Очень частый (80–99%)12
HP:0000160Narrow mouth
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000308Microretrognathia
HP:0000316Hypertelorism
HP:0000463Anteverted nares
HP:0002119Ventriculomegaly
HP:0002335Agenesis of cerebellar vermis
HP:0003196Short nose
HP:0006899Fusion of the cerebellar hemispheres
HP:0100321Abnormality of the dentate nucleus
HP:0000358Posteriorly rotated ears
Частый (30–79%)4
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0010664Fusion of the left and right thalami
HP:0100842Septo-optic dysplasia
Периодический (5–29%)14
HP:0000130Abnormality of the uterus
HP:0000271Abnormality of the face
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0001626Abnormality of the cardiovascular system
HP:0002023Anal atresia
HP:0002032Esophageal atresia
HP:0002251Aganglionic megacolon
HP:0002575Tracheoesophageal fistula
HP:0006101Finger syndactyly
HP:0009803Short phalanx of finger
HP:0009943Complete duplication of thumb phalanx
HP:0010442Polydactyly
HP:0012210Abnormal renal morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)