Neonatal Marfan syndrome
ORPHA:284979DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)43
Облигатный (100%)3
HP:0001653Mitral regurgitation
HP:0002097Emphysema
HP:0005180Tricuspid regurgitation
Очень частый (80–99%)27
HP:0000268Dolichocephaly
HP:0000485Megalocornea
HP:0000768Pectus carinatum
HP:0000973Cutis laxa
HP:0001083Ectopia lentis
HP:0001166Arachnodactyly
HP:0001181Adducted thumb
HP:0001270Motor delay
HP:0001371Flexion contracture
HP:0001518Small for gestational age
HP:0001626Abnormality of the cardiovascular system
HP:0001634Mitral valve prolapse
HP:0001704Tricuspid valve prolapse
HP:0001713Abnormal cardiac ventricle morphology
HP:0002643Neonatal respiratory distress
HP:0004970Ascending tubular aorta aneurysm
HP:0008124Talipes calcaneovarus
HP:0008734Decreased testicular size
HP:0010511Long toe
HP:0011003High myopia
HP:0011968Feeding difficulties
HP:0012418Hypoxemia
HP:0030148Heart murmur
HP:0100578Lipoatrophy
HP:0100625Enlarged thorax
HP:0100693Iridodonesis
HP:0100807Long fingers
Частый (30–79%)13
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000592Blue sclerae
HP:0001252Hypotonia
HP:0001265Hyporeflexia
HP:0001382Joint hypermobility
HP:0002616Aortic root aneurysm
HP:0002705High, narrow palate
HP:0009901Crumpled ear
HP:0012771Increased arm span
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)