CHST3-related skeletal dysplasia
ORPHA:263463DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)18
HP:0000316Hypertelorism
HP:0001156Brachydactyly
HP:0001371Flexion contracture
HP:0001552Barrel-shaped chest
HP:0002515Waddling gait
HP:0002650Scoliosis
HP:0002829Arthralgia
HP:0002857Genu valgum
HP:0002945Intervertebral space narrowing
HP:0002967Cubitus valgus
HP:0003037Enlarged joints
HP:0003312Abnormal form of the vertebral bodies
HP:0003521Disproportionate short-trunk short stature
HP:0008905Rhizomelia
HP:0009811Abnormality of the elbow
HP:0010582Irregular epiphyses
HP:0010585Small epiphyses
HP:0045075Sparse eyebrow
Частый (30–79%)8
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000684Delayed eruption of teeth
HP:0001270Motor delay
HP:0002553Highly arched eyebrow
HP:0002751Kyphoscoliosis
HP:0010049Short metacarpal
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | Worldwide | Family(ies) |
| 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)