Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
ORPHA:96182Etiological subtypeAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)59
Очень частый (80–99%)4
HP:0000347Micrognathia
HP:0001511Intrauterine growth retardation
HP:0002750Delayed skeletal maturation
HP:0008897Postnatal growth retardation
Частый (30–79%)19
HP:0000233Thin vermilion border
HP:0000325Triangular face
HP:0000356Abnormality of the outer ear
HP:0000750Delayed speech and language development
HP:0001156Brachydactyly
HP:0001159Syndactyly
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001508Failure to thrive
HP:0001518Small for gestational age
HP:0001999Abnormal facial shape
HP:0002020Gastroesophageal reflux
HP:0002714Downturned corners of mouth
HP:0003162Fasting hypoglycemia
HP:0004482Relative macrocephaly
HP:0008872Feeding difficulties in infancy
HP:0011220Prominent forehead
HP:0030084Clinodactyly
HP:0100555Asymmetric growth
Периодический (5–29%)34
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000119Abnormality of the genitourinary system
HP:0000160Narrow mouth
HP:0000201Pierre-Robin sequence
HP:0000331Short chin
HP:0000678Dental crowding
HP:0000691Microdontia
HP:0000824Decreased response to growth hormone stimulation test
HP:0000826Precocious puberty
HP:0000855Insulin resistance
HP:0000975Hyperhidrosis
HP:0001328Specific learning disability
HP:0001476Delayed closure of the anterior fontanelle
HP:0001620Abnormally high-pitched voice
HP:0001627Abnormal heart morphology
HP:0002007Frontal bossing
HP:0002013Vomiting
HP:0002019Constipation
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002835Aspiration
HP:0002870Obstructive sleep apnea
HP:0003199Decreased muscle mass
HP:0003944Narrow joint spaces of the elbow
HP:0004209Clinodactyly of the 5th finger
HP:0004396Poor appetite
HP:0008846Severe intrauterine growth retardation
HP:0010782Shoulder dimple
HP:0011094Overbite
HP:0012412Premature adrenarche
HP:0012523Oral aversion
HP:0100559Lower limb asymmetry
HP:0100633Esophagitis
Очень редкий (1–4%)2
HP:0000085Horseshoe kidney
HP:0000110Renal dysplasia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)