Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
ORPHA:163649DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)41
Очень частый (80–99%)28
HP:0000248Brachycephaly
HP:0000260Wide anterior fontanel
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000518Cataract
HP:0000637Long palpebral fissure
HP:0000774Narrow chest
HP:0000926Platyspondyly
HP:0001238Slender finger
HP:0001263Global developmental delay
HP:0002673Coxa valga
HP:0002693Abnormality of the skull base
HP:0002714Downturned corners of mouth
HP:0002942Thoracic kyphosis
HP:0003071Flattened epiphysis
HP:0003180Flat acetabular roof
HP:0003196Short nose
HP:0003300Ovoid vertebral bodies
HP:0003366Abnormality of the femoral neck or head region
HP:0005280Depressed nasal bridge
HP:0006454Delayed patellar ossification
HP:0008783Wide proximal femoral metaphysis
HP:0011001Increased bone mineral density
HP:0011326Anterior plagiocephaly
HP:0011849Abnormal bone ossification
Частый (30–79%)5
HP:0000347Micrognathia
HP:0002007Frontal bossing
HP:0007894Hypopigmentation of the fundus
HP:0011329Abnormality of cranial sutures
HP:0100558Hemiatrophy of upper limb
Периодический (5–29%)8
HP:0000175Cleft palate
HP:0000218High palate
HP:0000541Retinal detachment
HP:0000545Myopia
HP:0000568Microphthalmia
HP:0002879Anisospondyly
HP:0009811Abnormality of the elbow
HP:0010471Oligosacchariduria
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)