Mosaic trisomy 8 syndrome
ORPHA:96061Malformation syndromeNot applicable, UnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)42
Очень частый (80–99%)1
HP:0002342Intellectual disability, moderate
Частый (30–79%)27
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0000268Dolichocephaly
HP:0000276Long face
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000377Abnormal pinna morphology
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000445Wide nose
HP:0000455Broad nasal tip
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000772Abnormal rib morphology
HP:0000774Narrow chest
HP:0001376Limitation of joint mobility
HP:0001869Deep plantar creases
HP:0002007Frontal bossing
HP:0002650Scoliosis
HP:0003275Narrow pelvis bone
HP:0003422Vertebral segmentation defect
HP:0006191Deep palmar crease
HP:0006443Patellar aplasia
HP:0007957Corneal opacity
HP:0009738Abnormality of the antihelix
HP:0100490Camptodactyly of finger
Периодический (5–29%)14
HP:0000028Cryptorchidism
HP:0000098Tall stature
HP:0000175Cleft palate
HP:0000218High palate
HP:0000365Hearing impairment
HP:0000470Short neck
HP:0001010Hypopigmentation of the skin
HP:0001053Hypopigmented skin patches
HP:0001274Agenesis of corpus callosum
HP:0002804Arthrogryposis multiplex congenita
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0008734Decreased testicular size
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)