Acitretin/etretinate embryopathy
ORPHA:40366Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)27
Облигатный (100%)1
HP:0011438Maternal teratogenic exposure
Частый (30–79%)21
HP:0000218High palate
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000378Cupped ear
HP:0000463Anteverted nares
HP:0000479Abnormal retinal morphology
HP:0000778Hypoplasia of the thymus
HP:0001622Premature birth
HP:0001662Bradycardia
HP:0001710Conotruncal defect
HP:0001999Abnormal facial shape
HP:0005104Hypoplastic nasal septum
HP:0006695Atrioventricular canal defect
HP:0008058Aplasia/Hypoplasia of the optic nerve
HP:0008364Abnormality of the calcaneus
HP:0008551Microtia
HP:0008619Bilateral sensorineural hearing impairment
HP:0009099Median cleft palate
HP:0009117Aplasia/Hypoplasia of the maxilla
HP:0012759Neurodevelopmental abnormality
Периодический (5–29%)5
HP:0000384Preauricular skin tag
HP:0001709Third degree atrioventricular block
HP:0006493Aplasia/hypoplasia involving bones of the lower limbs
HP:0006496Aplasia/hypoplasia involving bones of the upper limbs
HP:0009760Antecubital pterygium
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 26 | 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)