Tetrasomy 5p syndrome
ORPHA:3309Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)44
Очень частый (80–99%)21
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0001321Cerebellar hypoplasia
HP:0001635Congestive heart failure
HP:0001845Overlapping toe
HP:0002092Pulmonary arterial hypertension
HP:0003196Short nose
HP:0006931Lipoma of corpus callosum
HP:0011800Midface retrusion
HP:0012368Flat face
HP:0100807Long fingers
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0000280Coarse facial features
HP:0000293Full cheeks
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000463Anteverted nares
HP:0000767Pectus excavatum
HP:0000961Cyanosis
Частый (30–79%)16
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000582Upslanted palpebral fissure
HP:0001508Failure to thrive
HP:0001762Talipes equinovarus
HP:0002098Respiratory distress
HP:0002205Recurrent respiratory infections
HP:0004209Clinodactyly of the 5th finger
HP:0004467Preauricular pit
HP:0005989Redundant neck skin
HP:0008897Postnatal growth retardation
HP:0010109Short hallux
HP:0030148Heart murmur
Периодический (5–29%)7
HP:0000218High palate
HP:0000260Wide anterior fontanel
HP:0000286Epicanthus
HP:0001612Weak cry
HP:0002089Pulmonary hypoplasia
HP:0007483Depigmentation/hyperpigmentation of skin
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| 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)