Trisomy 18 syndrome
ORPHA:3380Malformation syndromeNot applicable, UnknownAntenatal, Neonatal
Фенотипы (HPO)74
Очень частый (80–99%)25
HP:0000028Cryptorchidism
HP:0000189Narrow palate
HP:0000268Dolichocephaly
HP:0000269Prominent occiput
HP:0000308Microretrognathia
HP:0000316Hypertelorism
HP:0000325Triangular face
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001539Omphalocele
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0003275Narrow pelvis bone
HP:0004097Deviation of finger
HP:0004322Short stature
HP:0004326Cachexia
HP:0010864Intellectual disability, severe
HP:0030680Abnormal cardiovascular system morphology
HP:0100490Camptodactyly of finger
HP:0100543Cognitive impairment
HP:0100810Pointed helix
HP:0000358Posteriorly rotated ears
Частый (30–79%)31
HP:0000008Abnormal morphology of female internal genitalia
HP:0000085Horseshoe kidney
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000235Abnormality of the fontanelles or cranial sutures
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000453Choanal atresia
HP:0000581Blepharophimosis
HP:0000776Congenital diaphragmatic hernia
HP:0001195Single umbilical artery
HP:0001250Seizure
HP:0001561Polyhydramnios
HP:0001762Talipes equinovarus
HP:0001792Small nail
HP:0002020Gastroesophageal reflux
HP:0002023Anal atresia
HP:0002032Esophageal atresia
HP:0002190Choroid plexus cyst
HP:0002750Delayed skeletal maturation
HP:0002871Central apnea
HP:0003272Abnormality of the hip bone
HP:0004646Hypoplasia of the nasal bone
HP:0007598Bilateral single transverse palmar creases
HP:0008872Feeding difficulties in infancy
HP:0010557Overlapping fingers
HP:0010880Increased nuchal translucency
HP:0010935Abnormality of the upper urinary tract
HP:0100335Non-midline cleft of the upper lip
HP:0100790Hernia
Периодический (5–29%)18
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000772Abnormal rib morphology
HP:0000879Short sternum
HP:0001188Hand clenching
HP:0001321Cerebellar hypoplasia
HP:0001360Holoprosencephaly
HP:0002021Pyloric stenosis
HP:0002308Chiari malformation
HP:0002323Anencephaly
HP:0002414Spina bifida
HP:0002814Abnormality of the lower limb
HP:0002817Abnormality of the upper limb
HP:0006501Aplasia/Hypoplasia of the radius
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0007703Abnormality of retinal pigmentation
HP:0007957Corneal opacity
Эпидемиология25
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 16.7 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.8 | Austria | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.4 | Hungary | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 25.3 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.1 | Italy | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.4 | Netherlands | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 11.2 | Norway | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 10.4 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 5.8 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8.9 | Belgium | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.8 | Germany | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 48.2 | Malta | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.4 | Poland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 9.5 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.9 | Spain | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 24.6 | Switzerland | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 13 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.5 | Ukraine | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 14.6 | Croatia | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 38.8 | Denmark | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 18 | Japan | Value and class |
| Point prevalence | 1-5 / 10 000 | — | Japan | Class only |
| Prevalence at birth | 1-5 / 10 000 | 19.1 | United States | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 12.6 | Specific population | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)