Omphalocele syndrome, Shprintzen-Goldberg type
ORPHA:3164Malformation syndromeNeonatal
Фенотипы (HPO)21
Очень частый (80–99%)9
HP:0000499Abnormal eyelash morphology
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001620Abnormally high-pitched voice
HP:0002650Scoliosis
HP:0005338Sparse lateral eyebrow
HP:0005956Anteroposteriorly shortened larynx
HP:0008749Laryngeal hypoplasia
HP:0009555Hypoplasia of the pharynx
Частый (30–79%)7
HP:0000219Thin upper lip vermilion
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0001539Omphalocele
HP:0002000Short columella
HP:0002643Neonatal respiratory distress
HP:0002714Downturned corners of mouth
Периодический (5–29%)5
HP:0000465Webbed neck
HP:0002020Gastroesophageal reflux
HP:0002023Anal atresia
HP:0002028Chronic diarrhea
HP:0008872Feeding difficulties in infancy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)