Musculocontractural Ehlers-Danlos syndrome
ORPHA:2953DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)64
Очень частый (80–99%)33
HP:0000028Cryptorchidism
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000239Large fontanelles
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000494Downslanted palpebral fissures
HP:0000592Blue sclerae
HP:0000766Abnormal sternum morphology
HP:0000974Hyperextensible skin
HP:0000978Bruising susceptibility
HP:0001075Atrophic scars
HP:0001238Slender finger
HP:0001324Muscle weakness
HP:0001519Disproportionate tall stature
HP:0001892Abnormal bleeding
HP:0001933Subcutaneous hemorrhage
HP:0002194Delayed gross motor development
HP:0002650Scoliosis
HP:0002761Generalized joint laxity
HP:0002804Arthrogryposis multiplex congenita
HP:0003196Short nose
HP:0003199Decreased muscle mass
HP:0003319Abnormality of the cervical spine
HP:0005272Prominent nasolabial fold
HP:0006184Decreased palmar creases
HP:0012534Dysesthesia
HP:0031869Recurrent joint dislocation
HP:0000358Posteriorly rotated ears
HP:0000377Abnormal pinna morphology
Частый (30–79%)14
HP:0000308Microretrognathia
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000541Retinal detachment
HP:0000545Myopia
HP:0001182Tapered finger
HP:0001581Recurrent skin infections
HP:0001582Redundant skin
HP:0002019Constipation
HP:0002751Kyphoscoliosis
HP:0002947Cervical kyphosis
HP:0003198Myopathy
HP:0007906Ocular hypertension
HP:0430043Thoracic lordosis
Периодический (5–29%)14
HP:0000009Functional abnormality of the bladder
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000365Hearing impairment
HP:0000501Glaucoma
HP:0000787Nephrolithiasis
HP:0001363Craniosynostosis
HP:0001627Abnormal heart morphology
HP:0001654Abnormal heart valve morphology
HP:0002107Pneumothorax
HP:0002119Ventriculomegaly
HP:0003414Atlantoaxial dislocation
HP:0100016Abnormality of mesentery morphology
HP:0410030Cleft lip
Очень редкий (1–4%)3
HP:0000023Inguinal hernia
HP:0000085Horseshoe kidney
HP:0004794Malrotation of small bowel
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 34 | 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)