Osteopathia striata-cranial sclerosis syndrome
ORPHA:2780Malformation syndromeX-linked dominantAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)44
Очень частый (80–99%)8
HP:0000944Abnormal metaphysis morphology
HP:0002684Thickened calvaria
HP:0005465Facial hyperostosis
HP:0008808High iliac wings
HP:0008818Large iliac wings
HP:0011001Increased bone mineral density
HP:0011002Osteopetrosis
HP:0100670Rough bone trabeculation
Частый (30–79%)14
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000239Large fontanelles
HP:0000256Macrocephaly
HP:0000270Delayed cranial suture closure
HP:0000405Conductive hearing impairment
HP:0000431Wide nasal bridge
HP:0000684Delayed eruption of teeth
HP:0002007Frontal bossing
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0005469Flat occiput
HP:0011220Prominent forehead
Периодический (5–29%)22
HP:0000248Brachycephaly
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000518Cataract
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001555Asymmetry of the thorax
HP:0001650Aortic valve stenosis
HP:0001680Coarctation of aorta
HP:0002300Mutism
HP:0002381Aphasia
HP:0002514Cerebral calcification
HP:0003298Spina bifida occulta
HP:0003307Hyperlordosis
HP:0003510Severe short stature
HP:0010529Echolalia
HP:0010628Facial palsy
HP:0012368Flat face
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)