Silver-Russell syndrome due to 11p15 microduplication
ORPHA:231144Etiological subtypeAutosomal dominant, Not applicableAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)19
Частый (30–79%)9
HP:0000325Triangular face
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0001562Oligohydramnios
HP:0002750Delayed skeletal maturation
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0008897Postnatal growth retardation
Периодический (5–29%)10
HP:0000324Facial asymmetry
HP:0001270Motor delay
HP:0001328Specific learning disability
HP:0001537Umbilical hernia
HP:0001558Decreased fetal movement
HP:0004482Relative macrocephaly
HP:0008846Severe intrauterine growth retardation
HP:0008947Floppy infant
HP:0011220Prominent forehead
HP:0011800Midface retrusion
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)