Kabuki syndrome
ORPHA:2322Malformation syndromeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)92
Очень частый (80–99%)18
HP:0000356Abnormality of the outer ear
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000527Long eyelashes
HP:0001249Intellectual disability
HP:0002000Short columella
HP:0002553Highly arched eyebrow
HP:0002937Hemivertebrae
HP:0003312Abnormal form of the vertebral bodies
HP:0003316Butterfly vertebrae
HP:0005338Sparse lateral eyebrow
HP:0005819Short middle phalanx of finger
HP:0007477Abnormal dermatoglyphics
HP:0007655Eversion of lateral third of lower eyelids
HP:0008428Vertebral clefting
HP:0008897Postnatal growth retardation
HP:0009237Short 5th finger
HP:0012758Neurodevelopmental delay
Частый (30–79%)38
HP:0000508Ptosis
HP:0000637Long palpebral fissure
HP:0000659Peters anomaly
HP:0000668Hypodontia
HP:0000687Widely spaced teeth
HP:0000691Microdontia
HP:0001212Prominent fingertip pads
HP:0001252Hypotonia
HP:0001373Joint dislocation
HP:0001382Joint hypermobility
HP:0001508Failure to thrive
HP:0001627Abnormal heart morphology
HP:0001671Abnormal cardiac septum morphology
HP:0001680Coarctation of aorta
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002650Scoliosis
HP:0002719Recurrent infections
HP:0004322Short stature
HP:0006482Abnormal dental morphology
HP:0008947Floppy infant
HP:0010314Premature thelarche
HP:0011968Feeding difficulties
HP:0025186Marcus Gunn jaw winking synkinesis
HP:0031087Absent pubertal growth spurt
HP:0410030Cleft lip
HP:0000079Abnormality of the urinary system
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000202Orofacial cleft
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000389Chronic otitis media
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000437Depressed nasal tip
HP:0000486Strabismus
Периодический (5–29%)31
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000074Ureteropelvic junction obstruction
HP:0000081Duplicated collecting system
HP:0000126Hydronephrosis
HP:0000384Preauricular skin tag
HP:0000482Microcornea
HP:0000589Coloboma
HP:0000592Blue sclerae
HP:0000639Nystagmus
HP:0000729Autistic behavior
HP:0000776Congenital diaphragmatic hernia
HP:0000826Precocious puberty
HP:0000998Hypertrichosis
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001513Obesity
HP:0001631Atrial septal defect
HP:0002020Gastroesophageal reflux
HP:0002353EEG abnormality
HP:0002720Decreased circulating IgA level
HP:0002827Hip dislocation
HP:0004209Clinodactyly of the 5th finger
HP:0004736Crossed fused renal ectopia
HP:0008678Renal hypoplasia/aplasia
HP:0008736Hypoplasia of penis
HP:0030001Lagophthalmos
HP:0034323Reduced circulating growth hormone concentration
HP:0100267Lip pit
HP:0100542Abnormal localization of kidney
HP:0200055Small hand
Очень редкий (1–4%)5
HP:0000568Microphthalmia
HP:0000609Optic nerve hypoplasia
HP:0000825Hyperinsulinemic hypoglycemia
HP:0012732Anorectal anomaly
HP:0030434Pilomatrixoma
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.16 | New Zealand | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.16 | Australia | Value and class |
| Point prevalence | 1-9 / 100 000 | 3.1 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.1 | Japan | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)