8p inverted duplication/deletion syndrome
ORPHA:96092Malformation syndromeNot applicable, UnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)56
Очень частый (80–99%)18
HP:0001276Hypertonia
HP:0001999Abnormal facial shape
HP:0002292Frontal balding
HP:0002510Spastic tetraplegia
HP:0002916Abnormality of chromosome segregation
HP:0008947Floppy infant
HP:0010864Intellectual disability, severe
HP:0011220Prominent forehead
HP:0011344Severe global developmental delay
HP:0000154Wide mouth
HP:0000232Everted lower lip vermilion
HP:0000400Macrotia
HP:0000463Anteverted nares
HP:0000750Delayed speech and language development
HP:0000767Pectus excavatum
HP:0001249Intellectual disability
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
Частый (30–79%)15
HP:0000079Abnormality of the urinary system
HP:0000311Round face
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0000478Abnormality of the eye
HP:0000717Autism
HP:0000729Autistic behavior
HP:0001274Agenesis of corpus callosum
HP:0001627Abnormal heart morphology
HP:0004209Clinodactyly of the 5th finger
HP:0005656Positional foot deformity
HP:0007018Attention deficit hyperactivity disorder
HP:0007020Progressive spastic paraplegia
HP:0100710Impulsivity
HP:0100807Long fingers
Периодический (5–29%)23
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000126Hydronephrosis
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000384Preauricular skin tag
HP:0000470Short neck
HP:0000592Blue sclerae
HP:0000664Synophrys
HP:0000826Precocious puberty
HP:0001250Seizure
HP:0001305Dandy-Walker malformation
HP:0001321Cerebellar hypoplasia
HP:0001636Tetralogy of Fallot
HP:0001651Dextrocardia
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002827Hip dislocation
HP:0005781Contractures of the large joints
HP:0006292Abnormality of dental eruption
HP:0010487Small hypothenar eminence
HP:0011466Aplasia/Hypoplasia of the gallbladder
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.9 | Italy | Value and class |
| Cases/families | — | 60 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)