Campomelia, Cumming type
ORPHA:1318Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)16
HP:0000003Multicystic kidney dysplasia
HP:0000175Cleft palate
HP:0000268Dolichocephaly
HP:0000476Cystic hygroma
HP:0000772Abnormal rib morphology
HP:0001156Brachydactyly
HP:0001522Death in infancy
HP:0001562Oligohydramnios
HP:0001732Abnormality of the pancreas
HP:0001737Pancreatic cysts
HP:0002652Skeletal dysplasia
HP:0002983Micromelia
HP:0005562Multiple renal cysts
HP:0006487Bowing of the long bones
HP:0007495Prematurely aged appearance
HP:0100760Clubbing of toes
Частый (30–79%)6
HP:0000765Abnormal thorax morphology
HP:0001789Hydrops fetalis
HP:0002240Hepatomegaly
HP:0002863Myelodysplasia
HP:0010781Skin dimple
HP:0100569Abnormally ossified vertebrae
Периодический (5–29%)5
HP:0000280Coarse facial features
HP:0001004Lymphedema
HP:0002242Abnormal intestine morphology
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)