Trisomy 10p syndrome
ORPHA:171929Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)63
Очень частый (80–99%)4
HP:0001249Intellectual disability
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
Частый (30–79%)14
HP:0000119Abnormality of the genitourinary system
HP:0000159Abnormal lip morphology
HP:0000268Dolichocephaly
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000366Abnormality of the nose
HP:0000478Abnormality of the eye
HP:0000598Abnormality of the ear
HP:0000924Abnormality of the skeletal system
HP:0001155Abnormality of the hand
HP:0001250Seizure
HP:0001760Abnormal foot morphology
HP:0001999Abnormal facial shape
HP:0011220Prominent forehead
Периодический (5–29%)45
HP:0000077Abnormality of the kidney
HP:0000143Rectovaginal fistula
HP:0000202Orofacial cleft
HP:0000218High palate
HP:0000233Thin vermilion border
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000582Upslanted palpebral fissure
HP:0001290Generalized hypotonia
HP:0001305Dandy-Walker malformation
HP:0001384Abnormality of the hip joint
HP:0001627Abnormal heart morphology
HP:0001762Talipes equinovarus
HP:0001831Short toe
HP:0002007Frontal bossing
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002033Poor suck
HP:0002266Focal clonic seizure
HP:0002275Poor motor coordination
HP:0002937Hemivertebrae
HP:0003196Short nose
HP:0003199Decreased muscle mass
HP:0005280Depressed nasal bridge
HP:0005562Multiple renal cysts
HP:0006055Ulnar deviated club hands
HP:0006958Abnormal auditory evoked potentials
HP:0009600Flexion contracture of thumb
HP:0009879Simplified gyral pattern
HP:0010537Wide cranial sutures
HP:0010851EEG with burst suppression
HP:0011181Low voltage EEG
HP:0011193EEG with focal spikes
HP:0011344Severe global developmental delay
HP:0011451Congenital microcephaly
HP:0011467Absent gallbladder
HP:0012385Camptodactyly
HP:0012745Short palpebral fissure
HP:0012794Periventricular white matter hypodensities
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)