Silver-Russell syndrome due to 7p11.2p13 microduplication
ORPHA:231137Etiological subtypeAutosomal dominant, Not applicableInfancy, Neonatal
Фенотипы (HPO)29
Частый (30–79%)12
HP:0000219Thin upper lip vermilion
HP:0000307Pointed chin
HP:0000331Short chin
HP:0000592Blue sclerae
HP:0001518Small for gestational age
HP:0002007Frontal bossing
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0004482Relative macrocephaly
HP:0008897Postnatal growth retardation
Периодический (5–29%)17
HP:0000066Labial hypoplasia
HP:0000322Short philtrum
HP:0000324Facial asymmetry
HP:0000325Triangular face
HP:0000460Narrow nose
HP:0000527Long eyelashes
HP:0000582Upslanted palpebral fissure
HP:0000975Hyperhidrosis
HP:0001212Prominent fingertip pads
HP:0001786Narrow foot
HP:0001943Hypoglycemia
HP:0002213Fine hair
HP:0006889Intellectual disability, borderline
HP:0008872Feeding difficulties in infancy
HP:0009890High anterior hairline
HP:0011342Mild global developmental delay
HP:0011471Gastrostomy tube feeding in infancy
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)