Spondylodysplastic Ehlers-Danlos syndrome
ORPHA:536471DiseaseInfancy, Neonatal
Фенотипы (HPO)105
Очень частый (80–99%)2
HP:0002751Kyphoscoliosis
HP:0002761Generalized joint laxity
Частый (30–79%)33
HP:0000164Abnormality of the dentition
HP:0000316Hypertelorism
HP:0000325Triangular face
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000520Proptosis
HP:0000592Blue sclerae
HP:0000926Platyspondyly
HP:0000938Osteopenia
HP:0000946Hypoplastic ilia
HP:0000963Thin skin
HP:0000974Hyperextensible skin
HP:0000977Soft skin
HP:0001027Soft, doughy skin
HP:0001167Abnormality of finger
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001371Flexion contracture
HP:0001373Joint dislocation
HP:0001382Joint hypermobility
HP:0001385Hip dysplasia
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0001999Abnormal facial shape
HP:0002007Frontal bossing
HP:0002650Scoliosis
HP:0002659Increased susceptibility to fractures
HP:0002828Multiple joint contractures
HP:0003468Abnormal vertebral morphology
HP:0004322Short stature
HP:0004993Slender long bones with narrow diaphyses
HP:0008453Congenital kyphoscoliosis
HP:0012368Flat face
Периодический (5–29%)36
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000894Short clavicles
HP:0000954Single transverse palmar crease
HP:0000973Cutis laxa
HP:0001075Atrophic scars
HP:0001270Motor delay
HP:0001654Abnormal heart valve morphology
HP:0001772Talipes equinovalgus
HP:0002093Respiratory insufficiency
HP:0002209Sparse scalp hair
HP:0002974Radioulnar synostosis
HP:0002987Elbow flexion contracture
HP:0003015Flared metaphysis
HP:0003016Metaphyseal widening
HP:0003048Radial head subluxation
HP:0003196Short nose
HP:0003368Abnormality of the femoral head
HP:0003370Flat capital femoral epiphysis
HP:0004568Beaking of vertebral bodies
HP:0005280Depressed nasal bridge
HP:0006487Bowing of the long bones
HP:0008499High hypermetropia
HP:0009811Abnormality of the elbow
HP:0010575Dysplasia of the femoral head
HP:0011332Hemifacial hypoplasia
HP:0011341Long upper lip
HP:0040160Generalized osteoporosis
HP:0100255Metaphyseal dysplasia
HP:0100864Short femoral neck
Очень редкий (1–4%)34
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000135Hypogonadism
HP:0000485Megalocornea
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000508Ptosis
HP:0000545Myopia
HP:0000588Optic disc coloboma
HP:0000609Optic nerve hypoplasia
HP:0000612Iris coloboma
HP:0000768Pectus carinatum
HP:0001004Lymphedema
HP:0001043Prominent scalp veins
HP:0001054Numerous nevi
HP:0001631Atrial septal defect
HP:0001642Pulmonic stenosis
HP:0001650Aortic valve stenosis
HP:0001822Hallux valgus
HP:0002089Pulmonary hypoplasia
HP:0002091Restrictive ventilatory defect
HP:0002999Patellar dislocation
HP:0003417Coronal cleft vertebrae
HP:0004269Subluxation of the small joints of the hand
HP:0004442Sagittal craniosynostosis
HP:0004970Ascending tubular aorta aneurysm
HP:0007787Posterior subcapsular cataract
HP:0007957Corneal opacity
HP:0008807Acetabular dysplasia
HP:0009944Partial duplication of thumb phalanx
HP:0010754Abnormality of the temporomandibular joint
HP:0012687Agenesis of pineal gland
HP:0040047Abnormality of the right hemidiaphragm
HP:0100777Exostoses
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 24 | Worldwide | Family(ies) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)