Recombinant 8 syndrome
ORPHA:96167Malformation syndromeUnknownInfancy, Neonatal
Фенотипы (HPO)46
Очень частый (80–99%)14
HP:0000028Cryptorchidism
HP:0000164Abnormality of the dentition
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001582Redundant skin
HP:0001595Abnormality of the hair
HP:0001869Deep plantar creases
HP:0001999Abnormal facial shape
HP:0002162Low posterior hairline
HP:0002714Downturned corners of mouth
HP:0100729Large face
Частый (30–79%)27
HP:0000046Small scrotum
HP:0000050Hypoplastic male external genitalia
HP:0000077Abnormality of the kidney
HP:0000190Abnormal oral frenulum morphology
HP:0000212Gingival overgrowth
HP:0000356Abnormality of the outer ear
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000389Chronic otitis media
HP:0000464Abnormality of the neck
HP:0000766Abnormal sternum morphology
HP:0000767Pectus excavatum
HP:0001250Seizure
HP:0001257Spasticity
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001643Patent ductus arteriosus
HP:0002650Scoliosis
HP:0004209Clinodactyly of the 5th finger
HP:0004415Pulmonary artery stenosis
HP:0005280Depressed nasal bridge
HP:0006443Patellar aplasia
HP:0007598Bilateral single transverse palmar creases
HP:0012471Thick vermilion border
HP:0030680Abnormal cardiovascular system morphology
HP:0100490Camptodactyly of finger
Периодический (5–29%)5
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000478Abnormality of the eye
HP:0000504Abnormality of vision
HP:0004378Abnormality of the anus
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)