Geroderma osteodysplastica
ORPHA:2078Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены2
Фенотипы (HPO)30
Очень частый (80–99%)12
HP:0001382Joint hypermobility
HP:0000939Osteoporosis
HP:0000963Thin skin
HP:0000974Hyperextensible skin
HP:0001582Redundant skin
HP:0002757Recurrent fractures
HP:0002953Vertebral compression fracture
HP:0003312Abnormal form of the vertebral bodies
HP:0003510Severe short stature
HP:0004568Beaking of vertebral bodies
HP:0004586Biconcave vertebral bodies
HP:0011849Abnormal bone ossification
Частый (30–79%)4
HP:0001252Hypotonia
HP:0001510Growth delay
HP:0002650Scoliosis
HP:0002827Hip dislocation
Периодический (5–29%)14
HP:0000272Malar flattening
HP:0000303Mandibular prognathia
HP:0000478Abnormality of the eye
HP:0000482Microcornea
HP:0000504Abnormality of vision
HP:0000768Pectus carinatum
HP:0000926Platyspondyly
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001763Pes planus
HP:0001883Talipes
HP:0005930Abnormality of epiphysis morphology
HP:0007495Prematurely aged appearance
HP:0100790Hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)