Rhizomelic chondrodysplasia punctata
ORPHA:177DiseaseAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)20
Очень частый (80–99%)15
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000518Cataract
HP:0000944Abnormal metaphysis morphology
HP:0000958Dry skin
HP:0001510Growth delay
HP:0002231Sparse body hair
HP:0002650Scoliosis
HP:0004322Short stature
HP:0005930Abnormality of epiphysis morphology
HP:0008064Ichthyosis
HP:0008905Rhizomelia
HP:0009826Limb undergrowth
HP:0010655Epiphyseal stippling
Частый (30–79%)3
HP:0001376Limitation of joint mobility
HP:0003298Spina bifida occulta
HP:0012368Flat face
Периодический (5–29%)2
HP:0001596Alopecia
HP:0010864Intellectual disability, severe
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | United States | 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)