Down syndrome
ORPHA:870Malformation syndromeNot applicableAntenatal, Neonatal
Фенотипы (HPO)72
Очень частый (80–99%)14
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000470Short neck
HP:0000474Thickened nuchal skin fold
HP:0000582Upslanted palpebral fissure
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001328Specific learning disability
HP:0001382Joint hypermobility
HP:0005280Depressed nasal bridge
HP:0011897Neutrophilia
HP:0012368Flat face
HP:0100830Round ear
Частый (30–79%)32
HP:0000144Decreased fertility
HP:0000158Macroglossia
HP:0000160Narrow mouth
HP:0000164Abnormality of the dentition
HP:0000179Thick lower lip vermilion
HP:0000189Narrow palate
HP:0000194Open mouth
HP:0000235Abnormality of the fontanelles or cranial sutures
HP:0000457Depressed nasal ridge
HP:0000475Broad neck
HP:0000691Microdontia
HP:0001513Obesity
HP:0001537Umbilical hernia
HP:0001629Ventricular septal defect
HP:0001852Sandal gap
HP:0001871Abnormality of blood and blood-forming tissues
HP:0001873Thrombocytopenia
HP:0001901Polycythemia
HP:0002247Duodenal atresia
HP:0002376Developmental regression
HP:0002511Alzheimer disease
HP:0002714Downturned corners of mouth
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0006695Atrioventricular canal defect
HP:0007495Prematurely aged appearance
HP:0007598Bilateral single transverse palmar creases
HP:0010808Protruding tongue
HP:0010978Abnormality of immune system physiology
HP:0030680Abnormal cardiovascular system morphology
HP:0100763Abnormality of the lymphatic system
Периодический (5–29%)25
HP:0000405Conductive hearing impairment
HP:0000486Strabismus
HP:0000498Blepharitis
HP:0000518Cataract
HP:0000545Myopia
HP:0000563Keratoconus
HP:0000646Amblyopia
HP:0000823Delayed puberty
HP:0001250Seizure
HP:0001288Gait disturbance
HP:0001636Tetralogy of Fallot
HP:0001684Secundum atrial septal defect
HP:0001909Leukemia
HP:0002020Gastroesophageal reflux
HP:0002023Anal atresia
HP:0002251Aganglionic megacolon
HP:0002608Celiac disease
HP:0002750Delayed skeletal maturation
HP:0003414Atlantoaxial dislocation
HP:0005978Type II diabetes mellitus
HP:0006733Acute megakaryocytic leukemia
HP:0007328Impaired pain sensation
HP:0008070Sparse hair
HP:0008678Renal hypoplasia/aplasia
HP:0012450Chronic constipation
Очень редкий (1–4%)1
HP:0000836Hyperthyroidism
Эпидемиология24
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 6-9 / 10 000 | 95 | Worldwide | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only |
| Prevalence at birth | >1 / 1000 | 101 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 57 | Europe | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 63.7 | France | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 98.3 | Germany | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 70 | Belgium | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 74 | Italy | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 91.2 | Netherlands | Value and class |
| Prevalence at birth | >1 / 1000 | 110 | Norway | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 69 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 38 | Portugal | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 91.6 | United Kingdom | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 98 | Switzerland | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 66 | Poland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 59 | Denmark | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 44 | Croatia | Value and class |
| Prevalence at birth | 6-9 / 10 000 | 75 | Hungary | Value and class |
| Prevalence at birth | >1 / 1000 | 235 | Ireland | Value and class |
| Prevalence at birth | >1 / 1000 | 100 | Ukraine | Value and class |
| Prevalence at birth | >1 / 1000 | 174 | Japan | Value and class |
| Point prevalence | 6-9 / 10 000 | 66 | United Kingdom | Value and class |
| Prevalence at birth | >1 / 1000 | 126 | United States | Value and class |
| Prevalence at birth | >1 / 1000 | 130 | South Africa | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)