Ring chromosome 10 syndrome
ORPHA:1438Malformation syndromeNot applicable, UnknownAntenatal, Neonatal
Фенотипы (HPO)24
Очень частый (80–99%)24
HP:0000233Thin vermilion border
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000568Microphthalmia
HP:0000767Pectus excavatum
HP:0001182Tapered finger
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001511Intrauterine growth retardation
HP:0001852Sandal gap
HP:0002007Frontal bossing
HP:0002251Aganglionic megacolon
HP:0002901Hypocalcemia
HP:0004326Cachexia
HP:0006610Wide intermamillary distance
HP:0008678Renal hypoplasia/aplasia
HP:0009738Abnormality of the antihelix
HP:0009748Large earlobe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | 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)