Metaphyseal chondrodysplasia, Schmid type
ORPHA:174DiseaseAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)8
HP:0002515Waddling gait
HP:0002812Coxa vara
HP:0003021Metaphyseal cupping
HP:0003025Metaphyseal irregularity
HP:0006431Proximal femoral metaphyseal abnormality
HP:0009826Limb undergrowth
HP:0025369Thick growth plates
HP:0030299Distal femoral metaphyseal abnormality
Частый (30–79%)16
HP:0000907Anterior rib cupping
HP:0001248Short tubular bones of the hand
HP:0001385Hip dysplasia
HP:0002970Genu varum
HP:0002980Femoral bowing
HP:0003015Flared metaphysis
HP:0003026Short long bone
HP:0003411Proximal femoral metaphyseal irregularity
HP:0005028Widened proximal tibial metaphyses
HP:0005923Abnormalities of the metaphyses of the hand
HP:0006028Metaphyseal cupping of metacarpals
HP:0006208Metaphyseal cupping of proximal phalanges
HP:0006634Osteosclerosis of ribs
HP:0008873Disproportionate short-limb short stature
HP:0009852Broad proximal phalanges of the hand
HP:0045079Distal femoral metaphyseal irregularity
Периодический (5–29%)9
HP:0000926Platyspondyly
HP:0001513Obesity
HP:0002829Arthralgia
HP:0002938Lumbar hyperlordosis
HP:0002979Bowing of the legs
HP:0003301Irregular vertebral endplates
HP:0003468Abnormal vertebral morphology
HP:0004019Radial metaphyseal irregularity
HP:0004042Ulnar metaphyseal irregularity
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)