Craniosynostosis, Herrmann-Opitz type
ORPHA:2145Malformation syndromeAntenatal
Фенотипы (HPO)24
Очень частый (80–99%)10
HP:0000248Brachycephaly
HP:0000262Turricephaly
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0001171Split hand
HP:0001511Intrauterine growth retardation
HP:0002983Micromelia
HP:0004322Short stature
HP:0006101Finger syndactyly
HP:0100543Cognitive impairment
Частый (30–79%)14
HP:0000175Cleft palate
HP:0000272Malar flattening
HP:0000444Convex nasal ridge
HP:0000465Webbed neck
HP:0000772Abnormal rib morphology
HP:0000795Abnormality of the urethra
HP:0001156Brachydactyly
HP:0001363Craniosynostosis
HP:0001562Oligohydramnios
HP:0003196Short nose
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0008551Microtia
HP:0009738Abnormality of the antihelix
HP:0010935Abnormality of the upper urinary tract
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)