Trisomy 17p syndrome
ORPHA:261290Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)50
Очень частый (80–99%)9
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
Частый (30–79%)16
HP:0000113Polycystic kidney dysplasia
HP:0000126Hydronephrosis
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000445Wide nose
HP:0000470Short neck
HP:0000508Ptosis
HP:0001276Hypertonia
HP:0001371Flexion contracture
HP:0001510Growth delay
HP:0002230Generalized hirsutism
HP:0008661Urethral stenosis
HP:0008736Hypoplasia of penis
HP:0010481Urethral valve
Периодический (5–29%)25
HP:0000154Wide mouth
HP:0000158Macroglossia
HP:0000175Cleft palate
HP:0000202Orofacial cleft
HP:0000238Hydrocephalus
HP:0000280Coarse facial features
HP:0000319Smooth philtrum
HP:0000365Hearing impairment
HP:0000448Prominent nose
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000518Cataract
HP:0001182Tapered finger
HP:0001643Patent ductus arteriosus
HP:0001650Aortic valve stenosis
HP:0001883Talipes
HP:0002162Low posterior hairline
HP:0002650Scoliosis
HP:0003202Skeletal muscle atrophy
HP:0004383Hypoplastic left heart
HP:0005487Prominent metopic ridge
HP:0009890High anterior hairline
HP:0009928Thick nasal alae
HP:0011229Broad eyebrow
HP:0012471Thick vermilion border
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)