Metatropic dysplasia
ORPHA:2635DiseaseAutosomal dominant, Not applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)19
HP:0000348High forehead
HP:0000772Abnormal rib morphology
HP:0000774Narrow chest
HP:0000944Abnormal metaphysis morphology
HP:0001387Joint stiffness
HP:0002650Scoliosis
HP:0002652Skeletal dysplasia
HP:0002808Kyphosis
HP:0002826Halberd-shaped pelvis
HP:0002983Micromelia
HP:0003103Abnormal cortical bone morphology
HP:0003312Abnormal form of the vertebral bodies
HP:0003336Abnormal enchondral ossification
HP:0003510Severe short stature
HP:0005108Abnormal intervertebral disk morphology
HP:0005280Depressed nasal bridge
HP:0008434Hypoplastic cervical vertebrae
HP:0100670Rough bone trabeculation
HP:0100818Long thorax
Периодический (5–29%)7
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000518Cataract
HP:0004209Clinodactyly of the 5th finger
HP:0006703Aplasia/Hypoplasia of the lungs
HP:0100490Camptodactyly of finger
HP:0000358Posteriorly rotated ears
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 81 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)