Cloverleaf skull-multiple congenital anomalies syndrome
ORPHA:93267Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)19
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000772Abnormal rib morphology
HP:0000774Narrow chest
HP:0000889Abnormality of the clavicle
HP:0000926Platyspondyly
HP:0000944Abnormal metaphysis morphology
HP:0002007Frontal bossing
HP:0002676Cloverleaf skull
HP:0002691Platybasia
HP:0002714Downturned corners of mouth
HP:0004331Decreased skull ossification
HP:0005930Abnormality of epiphysis morphology
HP:0006487Bowing of the long bones
HP:0008905Rhizomelia
Частый (30–79%)8
HP:0000062Ambiguous genitalia
HP:0000239Large fontanelles
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0001274Agenesis of corpus callosum
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0009623Proximal placement of thumb
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)