B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:536467Clinical subtypeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)83
Очень частый (80–99%)19
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000938Osteopenia
HP:0001027Soft, doughy skin
HP:0001382Joint hypermobility
HP:0002007Frontal bossing
HP:0002651Spondyloepimetaphyseal dysplasia
HP:0002751Kyphoscoliosis
HP:0002757Recurrent fractures
HP:0002828Multiple joint contractures
HP:0003016Metaphyseal widening
HP:0004993Slender long bones with narrow diaphyses
HP:0005008Large joint dislocations
HP:0006487Bowing of the long bones
HP:0008807Acetabular dysplasia
HP:0008897Postnatal growth retardation
HP:0010575Dysplasia of the femoral head
HP:0011800Midface retrusion
HP:0012095Multiple joint dislocation
Частый (30–79%)28
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000463Anteverted nares
HP:0000520Proptosis
HP:0000592Blue sclerae
HP:0000691Microdontia
HP:0000939Osteoporosis
HP:0000963Thin skin
HP:0000974Hyperextensible skin
HP:0000978Bruising susceptibility
HP:0001075Atrophic scars
HP:0001166Arachnodactyly
HP:0001181Adducted thumb
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001319Neonatal hypotonia
HP:0001385Hip dysplasia
HP:0001762Talipes equinovarus
HP:0001822Hallux valgus
HP:0003196Short nose
HP:0003300Ovoid vertebral bodies
HP:0004568Beaking of vertebral bodies
HP:0005280Depressed nasal bridge
HP:0006243Phalangeal dislocation
HP:0010646Cervical spine instability
HP:0010648Dermal translucency
Периодический (5–29%)36
HP:0000410Mixed hearing impairment
HP:0000473Torticollis
HP:0000482Microcornea
HP:0000501Glaucoma
HP:0000545Myopia
HP:0000670Carious teeth
HP:0000703Dentinogenesis imperfecta
HP:0000750Delayed speech and language development
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0000926Platyspondyly
HP:0000946Hypoplastic ilia
HP:0001250Seizure
HP:0001297Stroke
HP:0001357Plagiocephaly
HP:0001363Craniosynostosis
HP:0001562Oligohydramnios
HP:0001634Mitral valve prolapse
HP:0002089Pulmonary hypoplasia
HP:0002091Restrictive ventilatory defect
HP:0002093Respiratory insufficiency
HP:0002098Respiratory distress
HP:0002616Aortic root aneurysm
HP:0002650Scoliosis
HP:0002779Tracheomalacia
HP:0002974Radioulnar synostosis
HP:0003414Atlantoaxial dislocation
HP:0004970Ascending tubular aorta aneurysm
HP:0005678Anterior atlanto-occipital dislocation
HP:0006522Repeated pneumothoraces
HP:0008453Congenital kyphoscoliosis
HP:0009726Renal neoplasm
HP:0012366Basilar invagination
HP:0012727Thoracic aortic aneurysm
HP:0100750Atelectasis
HP:0500087Peripapillary atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 41 | Worldwide | Family(ies) |
| 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)