Megalencephaly-capillary malformation-polymicrogyria syndrome
ORPHA:60040Malformation syndromeNot applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)12
HP:0000154Wide mouth
HP:0000256Macrocephaly
HP:0000324Facial asymmetry
HP:0001052Nevus flammeus
HP:0001161Hand polydactyly
HP:0001770Toe syndactyly
HP:0001829Foot polydactyly
HP:0006101Finger syndactyly
HP:0100026Arteriovenous malformation
HP:0100555Asymmetric growth
HP:0100585Telangiectasia of the skin
HP:0100761Visceral angiomatosis
Частый (30–79%)14
HP:0001382Joint hypermobility
HP:0000238Hydrocephalus
HP:0000293Full cheeks
HP:0000348High forehead
HP:0000965Cutis marmorata
HP:0001034Hypermelanotic macule
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0002007Frontal bossing
HP:0002119Ventriculomegaly
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0012639Abnormal nervous system morphology
Периодический (5–29%)9
HP:0000490Deeply set eye
HP:0000648Optic atrophy
HP:0002126Polymicrogyria
HP:0002308Chiari malformation
HP:0002637Cerebral ischemia
HP:0002664Neoplasm
HP:0005280Depressed nasal bridge
HP:0011675Arrhythmia
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 170 | 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)