Trisomy 13 syndrome
ORPHA:3378Malformation syndromeNot applicable, UnknownAntenatal, Neonatal
Фенотипы (HPO)59
Очень частый (80–99%)24
HP:0000161Median cleft lip
HP:0000175Cleft palate
HP:0000235Abnormality of the fontanelles or cranial sutures
HP:0000272Malar flattening
HP:0000369Low-set ears
HP:0000476Cystic hygroma
HP:0000528Anophthalmia
HP:0000568Microphthalmia
HP:0000601Hypotelorism
HP:0001162Postaxial hand polydactyly
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001511Intrauterine growth retardation
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001789Hydrops fetalis
HP:0002167Abnormality of speech or vocalization
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0007598Bilateral single transverse palmar creases
HP:0010864Intellectual disability, severe
HP:0011344Severe global developmental delay
HP:0030680Abnormal cardiovascular system morphology
HP:0100543Cognitive impairment
Частый (30–79%)35
HP:0000008Abnormal morphology of female internal genitalia
HP:0000028Cryptorchidism
HP:0000069Abnormality of the ureter
HP:0000126Hydronephrosis
HP:0000164Abnormality of the dentition
HP:0000343Long philtrum
HP:0000370Abnormality of the middle ear
HP:0000384Preauricular skin tag
HP:0000407Sensorineural hearing impairment
HP:0000478Abnormality of the eye
HP:0000490Deeply set eye
HP:0000499Abnormal eyelash morphology
HP:0000504Abnormality of vision
HP:0000518Cataract
HP:0000612Iris coloboma
HP:0000648Optic atrophy
HP:0000772Abnormal rib morphology
HP:0000774Narrow chest
HP:0001362Skull defect
HP:0002101Abnormal lung lobation
HP:0002308Chiari malformation
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002808Kyphosis
HP:0004467Preauricular pit
HP:0005306Capillary hemangioma
HP:0005562Multiple renal cysts
HP:0007477Abnormal dermatoglyphics
HP:0008046Abnormal retinal vascular morphology
HP:0008053Aplasia/Hypoplasia of the iris
HP:0009738Abnormality of the antihelix
HP:0011039Abnormality of the helix
HP:0100257Ectrodactyly
HP:0100627Displacement of the urethral meatus
HP:0100790Hernia
Эпидемиология21
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.7 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.9 | Belgium | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.8 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.2 | Ireland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 24.1 | Malta | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.8 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Poland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.3 | Ukraine | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18 | Japan | Value and class |
| Point prevalence | 1-5 / 10 000 | 15.9 | Japan | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 12.6 | United States | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.8 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.1 | Hungary | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.4 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.2 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 13.2 | Switzerland | 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)