Silver-Russell syndrome due to an imprinting defect of 11p15
ORPHA:231140Etiological subtypeNot applicable, UnknownAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)28
Очень частый (80–99%)6
HP:0000325Triangular face
HP:0000331Short chin
HP:0001518Small for gestational age
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0100555Asymmetric growth
Частый (30–79%)11
HP:0000218High palate
HP:0000411Protruding ear
HP:0000678Dental crowding
HP:0004209Clinodactyly of the 5th finger
HP:0004325Decreased body weight
HP:0004482Relative macrocephaly
HP:0008872Feeding difficulties in infancy
HP:0008897Postnatal growth retardation
HP:0011220Prominent forehead
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry
Периодический (5–29%)9
HP:0000811Abnormal external genitalia
HP:0001052Nevus flammeus
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001270Motor delay
HP:0001540Diastasis recti
HP:0001943Hypoglycemia
HP:0001998Neonatal hypoglycemia
HP:0010442Polydactyly
Очень редкий (1–4%)2
HP:0000975Hyperhidrosis
HP:0001476Delayed closure of the anterior fontanelle
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)