Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
ORPHA:1110Malformation syndromeAutosomal dominantInfancy, Neonatal
Фенотипы (HPO)23
Очень частый (80–99%)14
HP:0000358Posteriorly rotated ears
HP:0000160Narrow mouth
HP:0000324Facial asymmetry
HP:0000325Triangular face
HP:0000337Broad forehead
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000444Convex nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0000670Carious teeth
HP:0001249Intellectual disability
HP:0002623Overriding aorta
HP:0002714Downturned corners of mouth
HP:0012303Abnormal aortic arch morphology
Частый (30–79%)2
HP:0000252Microcephaly
HP:0100026Arteriovenous malformation
Периодический (5–29%)7
HP:0000303Mandibular prognathia
HP:0000708Atypical behavior
HP:0001252Hypotonia
HP:0001511Intrauterine growth retardation
HP:0002970Genu varum
HP:0003272Abnormality of the hip bone
HP:0010669Hypoplasia of the zygomatic bone
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)