Silver-Russell syndrome
ORPHA:813DiseaseAutosomal dominant, Not applicableAntenatal, Neonatal
Фенотипы (HPO)53
Очень частый (80–99%)10
HP:0000325Triangular face
HP:0000369Low-set ears
HP:0000592Blue sclerae
HP:0001511Intrauterine growth retardation
HP:0004322Short stature
HP:0004326Cachexia
HP:0004482Relative macrocephaly
HP:0008897Postnatal growth retardation
HP:0011220Prominent forehead
HP:0011968Feeding difficulties
Частый (30–79%)29
HP:0000028Cryptorchidism
HP:0000032Abnormality of male external genitalia
HP:0000233Thin vermilion border
HP:0000270Delayed cranial suture closure
HP:0000347Micrognathia
HP:0000678Dental crowding
HP:0000855Insulin resistance
HP:0001270Motor delay
HP:0001531Failure to thrive in infancy
HP:0001620Abnormally high-pitched voice
HP:0001622Premature birth
HP:0001988Recurrent hypoglycemia
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0002360Sleep abnormality
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0002829Arthralgia
HP:0003199Decreased muscle mass
HP:0004209Clinodactyly of the 5th finger
HP:0008364Abnormality of the calcaneus
HP:0008734Decreased testicular size
HP:0010782Shoulder dimple
HP:0011844Abnormal appendicular skeleton morphology
HP:0012412Premature adrenarche
HP:0100555Asymmetric growth
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry
HP:0000358Posteriorly rotated ears
Периодический (5–29%)14
HP:0000047Hypospadias
HP:0000079Abnormality of the urinary system
HP:0000142Abnormality of the vagina
HP:0000729Autistic behavior
HP:0000826Precocious puberty
HP:0000957Cafe-au-lait spot
HP:0000975Hyperhidrosis
HP:0001256Intellectual disability, mild
HP:0001513Obesity
HP:0001626Abnormality of the cardiovascular system
HP:0001852Sandal gap
HP:0002650Scoliosis
HP:0005484Secondary microcephaly
HP:0008935Generalized neonatal hypotonia
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-5 / 10 000 | 15.5 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | — | United Kingdom | Class only |
| Point prevalence | 1-9 / 100 000 | 1 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)