Kyphoscoliotic Ehlers-Danlos syndrome
ORPHA:536545DiseaseAntenatal, Neonatal
Фенотипы (HPO)65
Очень частый (80–99%)3
HP:0001252Hypotonia
HP:0001382Joint hypermobility
HP:0002751Kyphoscoliosis
Частый (30–79%)12
HP:0000286Epicanthus
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0000664Synophrys
HP:0000974Hyperextensible skin
HP:0000978Bruising susceptibility
HP:0000987Atypical scarring of skin
HP:0001027Soft, doughy skin
HP:0001030Fragile skin
HP:0001319Neonatal hypotonia
HP:0002194Delayed gross motor development
HP:0008453Congenital kyphoscoliosis
Периодический (5–29%)32
HP:0000023Inguinal hernia
HP:0000218High palate
HP:0000365Hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000482Microcornea
HP:0000545Myopia
HP:0000592Blue sclerae
HP:0000767Pectus excavatum
HP:0000938Osteopenia
HP:0000963Thin skin
HP:0001058Poor wound healing
HP:0001155Abnormality of the hand
HP:0001166Arachnodactyly
HP:0001288Gait disturbance
HP:0001324Muscle weakness
HP:0001328Specific learning disability
HP:0001342Cerebral hemorrhage
HP:0001374Congenital hip dislocation
HP:0001519Disproportionate tall stature
HP:0001537Umbilical hernia
HP:0001558Decreased fetal movement
HP:0001760Abnormal foot morphology
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0002827Hip dislocation
HP:0003202Skeletal muscle atrophy
HP:0003834Shoulder dislocation
HP:0007023Antenatal intracerebral hemorrhage
HP:0007502Follicular hyperkeratosis
HP:0010727Spontaneous rupture of the globe
HP:0011968Feeding difficulties
HP:0025019Arterial rupture
Очень редкий (1–4%)18
HP:0000015Bladder diverticulum
HP:0000276Long face
HP:0000347Micrognathia
HP:0000405Conductive hearing impairment
HP:0000422Abnormality of the nasal bridge
HP:0000601Hypotelorism
HP:0000768Pectus carinatum
HP:0000939Osteoporosis
HP:0001647Bicuspid aortic valve
HP:0001651Dextrocardia
HP:0002650Scoliosis
HP:0003198Myopathy
HP:0003467Atlantoaxial instability
HP:0003994Dislocated wrist
HP:0004322Short stature
HP:0004942Aortic aneurysm
HP:0004976Knee dislocation
HP:0100309Subdural hemorrhage
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)