Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
ORPHA:231147Etiological subtypeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)20
Частый (30–79%)4
HP:0000325Triangular face
HP:0001518Small for gestational age
HP:0002007Frontal bossing
HP:0004209Clinodactyly of the 5th finger
Периодический (5–29%)16
HP:0000175Cleft palate
HP:0000324Facial asymmetry
HP:0000924Abnormality of the skeletal system
HP:0000975Hyperhidrosis
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0001622Premature birth
HP:0001627Abnormal heart morphology
HP:0001943Hypoglycemia
HP:0002194Delayed gross motor development
HP:0003241External genital hypoplasia
HP:0005484Secondary microcephaly
HP:0008872Feeding difficulties in infancy
HP:0030884Gastrojejunal tube feeding in infancy
HP:0100555Asymmetric growth
HP:0100559Lower limb asymmetry
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)