Trisomy 18p syndrome
ORPHA:1715Malformation syndromeAdolescent, Adult, Childhood, Infancy
Фенотипы (HPO)28
Очень частый (80–99%)17
HP:0000233Thin vermilion border
HP:0000340Sloping forehead
HP:0000377Abnormal pinna morphology
HP:0000384Preauricular skin tag
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000581Blepharophimosis
HP:0000582Upslanted palpebral fissure
HP:0000601Hypotelorism
HP:0001256Intellectual disability, mild
HP:0002021Pyloric stenosis
HP:0002553Highly arched eyebrow
HP:0002591Polyphagia
HP:0007018Attention deficit hyperactivity disorder
HP:0008689Bilateral cryptorchidism
HP:0011800Midface retrusion
Частый (30–79%)3
HP:0000160Narrow mouth
HP:0001167Abnormality of finger
HP:0001760Abnormal foot morphology
Периодический (5–29%)8
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0001319Neonatal hypotonia
HP:0001511Intrauterine growth retardation
HP:0002705High, narrow palate
HP:0004322Short stature
HP:0010628Facial palsy
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 25 | 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)