Cono-spondylar dysplasia
ORPHA:420794Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Фенотипы (HPO)26
Облигатный (100%)2
HP:0000943Dysostosis multiplex
HP:0001252Hypotonia
Очень частый (80–99%)2
HP:0010230Cone-shaped epiphyses of the phalanges of the hand
HP:0010864Intellectual disability, severe
Частый (30–79%)17
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000924Abnormality of the skeletal system
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001508Failure to thrive
HP:0001799Short nail
HP:0001999Abnormal facial shape
HP:0002370Poor coordination
HP:0002650Scoliosis
HP:0002656Epiphyseal dysplasia
HP:0002808Kyphosis
HP:0008093Short 4th toe
HP:0011344Severe global developmental delay
HP:0011800Midface retrusion
Периодический (5–29%)5
HP:0001338Partial agenesis of the corpus callosum
HP:0001561Polyhydramnios
HP:0005792Short humerus
HP:0006385Short lower limbs
HP:0012537Food intolerance
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)