X-linked dominant chondrodysplasia punctata
ORPHA:35173DiseaseX-linked dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)2
HP:0000951Abnormality of the skin
HP:0010655Epiphyseal stippling
Частый (30–79%)15
HP:0000324Facial asymmetry
HP:0000518Cataract
HP:0000929Abnormal skull morphology
HP:0001019Erythroderma
HP:0002007Frontal bossing
HP:0004322Short stature
HP:0004468Anomalous tracheal cartilage
HP:0005280Depressed nasal bridge
HP:0006619Anterior rib punctate calcifications
HP:0008064Ichthyosis
HP:0025474Erythematous plaque
HP:0040189Scaling skin
HP:0100559Lower limb asymmetry
HP:0100560Upper limb asymmetry
HP:0100569Abnormally ossified vertebrae
Периодический (5–29%)25
HP:0000218High palate
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000482Microcornea
HP:0000494Downslanted palpebral fissures
HP:0000568Microphthalmia
HP:0000653Sparse eyelashes
HP:0001197Abnormality of prenatal development or birth
HP:0001371Flexion contracture
HP:0001597Abnormality of the nail
HP:0001762Talipes equinovarus
HP:0001998Neonatal hypoglycemia
HP:0002088Abnormal lung morphology
HP:0002208Coarse hair
HP:0002232Patchy alopecia
HP:0002751Kyphoscoliosis
HP:0002827Hip dislocation
HP:0002999Patellar dislocation
HP:0004552Scarring alopecia of scalp
HP:0005756Neonatal epiphyseal stippling
HP:0008434Hypoplastic cervical vertebrae
HP:0008443Spinal deformities
HP:0008850Severe postnatal growth retardation
HP:0010720Abnormal hair pattern
HP:0045075Sparse eyebrow
Очень редкий (1–4%)4
HP:0000126Hydronephrosis
HP:0000377Abnormal pinna morphology
HP:0000407Sensorineural hearing impairment
HP:0100702Arachnoid cyst
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.25 | Europe | Value and class |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)