Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
ORPHA:1900Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)66
Очень частый (80–99%)11
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0000974Hyperextensible skin
HP:0000978Bruising susceptibility
HP:0000987Atypical scarring of skin
HP:0001030Fragile skin
HP:0001252Hypotonia
HP:0001319Neonatal hypotonia
HP:0005659Thoracic kyphoscoliosis
HP:0012379Abnormal enzyme/coenzyme activity
HP:0001382Joint hypermobility
Частый (30–79%)10
HP:0000482Microcornea
HP:0001075Atrophic scars
HP:0001324Muscle weakness
HP:0001373Joint dislocation
HP:0001519Disproportionate tall stature
HP:0001762Talipes equinovarus
HP:0002761Generalized joint laxity
HP:0002827Hip dislocation
HP:0002943Thoracic scoliosis
HP:0032153Joint subluxation
Периодический (5–29%)31
HP:0000023Inguinal hernia
HP:0000501Glaucoma
HP:0000540Hypermetropia
HP:0000541Retinal detachment
HP:0000545Myopia
HP:0000592Blue sclerae
HP:0000767Pectus excavatum
HP:0001058Poor wound healing
HP:0001315Reduced tendon reflexes
HP:0001537Umbilical hernia
HP:0001634Mitral valve prolapse
HP:0001892Abnormal bleeding
HP:0002194Delayed gross motor development
HP:0002495Impaired vibratory sensation
HP:0002617Dilatation
HP:0002647Aortic dissection
HP:0002999Patellar dislocation
HP:0003199Decreased muscle mass
HP:0003324Generalized muscle weakness
HP:0003458EMG: myopathic abnormalities
HP:0003690Limb muscle weakness
HP:0003835Shoulder subluxation
HP:0004942Aortic aneurysm
HP:0005294Arterial dissection
HP:0008780Congenital bilateral hip dislocation
HP:0020152Distal joint laxity
HP:0025019Arterial rupture
HP:0025513Scleral rupture
HP:0030043Hip subluxation
HP:0031158Widened atrophic scar
HP:0100295Muscle fiber atrophy
Очень редкий (1–4%)14
HP:0000243Trigonocephaly
HP:0000377Abnormal pinna morphology
HP:0000486Strabismus
HP:0001635Congestive heart failure
HP:0001763Pes planus
HP:0002091Restrictive ventilatory defect
HP:0002624Abnormal venous morphology
HP:0002705High, narrow palate
HP:0002987Elbow flexion contracture
HP:0003477Peripheral axonal neuropathy
HP:0006532Recurrent pneumonia
HP:0031189Wrist drop
HP:0031629Impaired tandem gait
HP:0045052Abnormality of the brachial nerve plexus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 1 | Worldwide | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)