Classical-like Ehlers-Danlos syndrome type 2
ORPHA:536532DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)63
Очень частый (80–99%)11
HP:0000938Osteopenia
HP:0000974Hyperextensible skin
HP:0000978Bruising susceptibility
HP:0001373Joint dislocation
HP:0001382Joint hypermobility
HP:0001582Redundant skin
HP:0001760Abnormal foot morphology
HP:0001763Pes planus
HP:0001765Hammertoe
HP:0001822Hallux valgus
HP:0031158Widened atrophic scar
Частый (30–79%)8
HP:0001537Umbilical hernia
HP:0001634Mitral valve prolapse
HP:0001999Abnormal facial shape
HP:0002827Hip dislocation
HP:0002933Ventral hernia
HP:0004976Knee dislocation
HP:0007457Prominent veins on trunk
HP:0025509Piezogenic pedal papules
Периодический (5–29%)44
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000189Narrow palate
HP:0000218High palate
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000465Webbed neck
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000545Myopia
HP:0000692Tooth malposition
HP:0000704Periodontitis
HP:0000767Pectus excavatum
HP:0000819Diabetes mellitus
HP:0000960Sacral dimple
HP:0001097Keratoconjunctivitis sicca
HP:0001166Arachnodactyly
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001488Bilateral ptosis
HP:0001596Alopecia
HP:0001698Pericardial effusion
HP:0001780Abnormality of toe
HP:0001852Sandal gap
HP:0002155Hypertriglyceridemia
HP:0002616Aortic root aneurysm
HP:0002619Varicose veins
HP:0002751Kyphoscoliosis
HP:0002808Kyphosis
HP:0002943Thoracic scoliosis
HP:0003042Elbow dislocation
HP:0003834Shoulder dislocation
HP:0003994Dislocated wrist
HP:0006243Phalangeal dislocation
HP:0006439Radioulnar dislocation
HP:0006480Premature loss of teeth
HP:0008138Equinus calcaneus
HP:0009938Sunken cheeks
HP:0010810Long uvula
HP:0010829Impaired temperature sensition
HP:0025232Bursitis
HP:0100546Carotid artery stenosis
HP:0100658Cellulitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)