Trisomy 20p syndrome
ORPHA:261318Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)71
Очень частый (80–99%)17
HP:0000293Full cheeks
HP:0000311Round face
HP:0000411Protruding ear
HP:0000470Short neck
HP:0000574Thick eyebrow
HP:0001252Hypotonia
HP:0001288Gait disturbance
HP:0001382Joint hypermobility
HP:0001999Abnormal facial shape
HP:0002167Abnormality of speech or vocalization
HP:0002311Incoordination
HP:0002553Highly arched eyebrow
HP:0002916Abnormality of chromosome segregation
HP:0003312Abnormal form of the vertebral bodies
HP:0012332Abnormal autonomic nervous system physiology
HP:0100543Cognitive impairment
HP:0100790Hernia
Частый (30–79%)25
HP:0000023Inguinal hernia
HP:0000164Abnormality of the dentition
HP:0000174Abnormal palate morphology
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000400Macrotia
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000582Upslanted palpebral fissure
HP:0001156Brachydactyly
HP:0001357Plagiocephaly
HP:0001537Umbilical hernia
HP:0001760Abnormal foot morphology
HP:0001883Talipes
HP:0002162Low posterior hairline
HP:0002208Coarse hair
HP:0002414Spina bifida
HP:0003196Short nose
HP:0003272Abnormality of the hip bone
HP:0006101Finger syndactyly
HP:0100874Thick hair
Периодический (5–29%)29
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000053Macroorchidism
HP:0000069Abnormality of the ureter
HP:0000077Abnormality of the kidney
HP:0000126Hydronephrosis
HP:0000232Everted lower lip vermilion
HP:0000233Thin vermilion border
HP:0000268Dolichocephaly
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000494Downslanted palpebral fissures
HP:0000581Blepharophimosis
HP:0000691Microdontia
HP:0000926Platyspondyly
HP:0001177Preaxial hand polydactyly
HP:0002007Frontal bossing
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0002808Kyphosis
HP:0003422Vertebral segmentation defect
HP:0004349Reduced bone mineral density
HP:0004397Ectopic anus
HP:0005562Multiple renal cysts
HP:0006610Wide intermamillary distance
HP:0009738Abnormality of the antihelix
HP:0030680Abnormal cardiovascular system morphology
HP:0100490Camptodactyly of finger
HP:0100542Abnormal localization of kidney
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)