15q overgrowth syndrome
ORPHA:314585Malformation syndromeNot applicable, UnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)64
Очень частый (80–99%)29
HP:0000085Horseshoe kidney
HP:0000126Hydronephrosis
HP:0000218High palate
HP:0000278Retrognathia
HP:0000280Coarse facial features
HP:0000308Microretrognathia
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000356Abnormality of the outer ear
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0001166Arachnodactyly
HP:0001270Motor delay
HP:0001319Neonatal hypotonia
HP:0001363Craniosynostosis
HP:0001382Joint hypermobility
HP:0001511Intrauterine growth retardation
HP:0001519Disproportionate tall stature
HP:0001548Overgrowth
HP:0001999Abnormal facial shape
HP:0002705High, narrow palate
HP:0007642Congenital stationary night blindness
HP:0008714Ureterovesical stenosis
HP:0009471Contracture of the proximal interphalangeal joint of the 3rd finger
HP:0009540Contracture of the proximal interphalangeal joint of the 2nd finger
HP:0012210Abnormal renal morphology
HP:0012758Neurodevelopmental delay
Периодический (5–29%)35
HP:0000193Bifid uvula
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000262Turricephaly
HP:0000268Dolichocephaly
HP:0000272Malar flattening
HP:0000303Mandibular prognathia
HP:0000319Smooth philtrum
HP:0000410Mixed hearing impairment
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000676Abnormality of the incisor
HP:0000678Dental crowding
HP:0000766Abnormal sternum morphology
HP:0001176Large hands
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001305Dandy-Walker malformation
HP:0001347Hyperreflexia
HP:0001623Breech presentation
HP:0001653Mitral regurgitation
HP:0001845Overlapping toe
HP:0002092Pulmonary arterial hypertension
HP:0002315Headache
HP:0002650Scoliosis
HP:0002667Nephroblastoma
HP:0003396Syringomyelia
HP:0004209Clinodactyly of the 5th finger
HP:0005180Tricuspid regurgitation
HP:0006143Abnormal finger flexion creases
HP:0006610Wide intermamillary distance
HP:0008519Abnormality of the coccyx
HP:0010653Abnormality of the falx cerebri
HP:0012444Brain atrophy
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)