Trisomy 8p syndrome
ORPHA:264450Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)65
Частый (30–79%)50
HP:0000028Cryptorchidism
HP:0000054Micropenis
HP:0000121Nephrocalcinosis
HP:0000175Cleft palate
HP:0000193Bifid uvula
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000358Posteriorly rotated ears
HP:0000384Preauricular skin tag
HP:0000405Conductive hearing impairment
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000582Upslanted palpebral fissure
HP:0000592Blue sclerae
HP:0000954Single transverse palmar crease
HP:0000960Sacral dimple
HP:0001100Heterochromia iridis
HP:0001156Brachydactyly
HP:0001274Agenesis of corpus callosum
HP:0001290Generalized hypotonia
HP:0001734Annular pancreas
HP:0001845Overlapping toe
HP:0001864Clinodactyly of the 5th toe
HP:0002019Constipation
HP:0002101Abnormal lung lobation
HP:0002162Low posterior hairline
HP:0002788Recurrent upper respiratory tract infections
HP:0002828Multiple joint contractures
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0004689Short fourth metatarsal
HP:0004704Short fifth metatarsal
HP:0005280Depressed nasal bridge
HP:0005495Metopic suture patent to nasal root
HP:0006801Hyperactive deep tendon reflexes
HP:0009913Aplasia/Hypoplasia of the tragus
HP:0010034Short 1st metacarpal
HP:0010864Intellectual disability, severe
HP:0010945Fetal pyelectasis
HP:0011466Aplasia/Hypoplasia of the gallbladder
HP:0011918Clinodactyly of the 4th toe
HP:0012758Neurodevelopmental delay
HP:0030148Heart murmur
HP:0040018Clinodactyly of hallux
HP:0040022Clinodactyly of the 2nd finger
Периодический (5–29%)15
HP:0000126Hydronephrosis
HP:0000238Hydrocephalus
HP:0000633Decreased lacrimation
HP:0001250Seizure
HP:0001305Dandy-Walker malformation
HP:0001636Tetralogy of Fallot
HP:0001711Abnormal left ventricle morphology
HP:0003006Neuroblastoma
HP:0004794Malrotation of small bowel
HP:0004969Peripheral pulmonary artery stenosis
HP:0005176Dysplastic aortic valve
HP:0008609Morphological abnormality of the middle ear
HP:0011546Abnormal atrioventricular connection
HP:00119393-4 finger cutaneous syndactyly
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1.7 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)