Campomelic dysplasia
ORPHA:140Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)21
HP:0000175Cleft palate
HP:0000256Macrocephaly
HP:0000347Micrognathia
HP:0000470Short neck
HP:0000774Narrow chest
HP:000087811 pairs of ribs
HP:0001601Laryngomalacia
HP:0002093Respiratory insufficiency
HP:0002650Scoliosis
HP:0002757Recurrent fractures
HP:0002779Tracheomalacia
HP:0002786Tracheobronchomalacia
HP:0002827Hip dislocation
HP:0002982Tibial bowing
HP:0003026Short long bone
HP:0003038Fibular hypoplasia
HP:0006487Bowing of the long bones
HP:0006584Small abnormally formed scapulae
HP:0008477Poorly ossified cervical vertebrae
HP:0008821Hypoplastic inferior ilia
HP:0012368Flat face
Частый (30–79%)9
HP:0000037Male pseudohermaphroditism
HP:0000062Ambiguous genitalia
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000520Proptosis
HP:0001762Talipes equinovarus
HP:0002980Femoral bowing
HP:0004322Short stature
HP:0010781Skin dimple
Периодический (5–29%)8
HP:0000126Hydronephrosis
HP:0000365Hearing impairment
HP:0002119Ventriculomegaly
HP:0002808Kyphosis
HP:0004408Abnormality of the sense of smell
HP:0005280Depressed nasal bridge
HP:0007036Hypoplasia of olfactory tract
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.0003 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.875 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)