Spondylometaphyseal dysplasia, Schmidt type
ORPHA:93316DiseaseAutosomal dominantAdolescent, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)3
HP:0000925Abnormality of the vertebral column
HP:0000944Abnormal metaphysis morphology
HP:0100255Metaphyseal dysplasia
Частый (30–79%)12
HP:0000926Platyspondyly
HP:0001385Hip dysplasia
HP:0002650Scoliosis
HP:0002812Coxa vara
HP:0002815Abnormality of the knee
HP:0002857Genu valgum
HP:0002867Abnormality of the ilium
HP:0003375Narrow greater sciatic notch
HP:0003510Severe short stature
HP:0003521Disproportionate short-trunk short stature
HP:0010574Abnormality of the epiphysis of the femoral head
HP:0100866Short iliac bones
Периодический (5–29%)15
HP:0000185Cleft soft palate
HP:0000347Micrognathia
HP:0000402Stenosis of the external auditory canal
HP:0000545Myopia
HP:0001561Polyhydramnios
HP:0002020Gastroesophageal reflux
HP:0002033Poor suck
HP:0002751Kyphoscoliosis
HP:0003019Abnormality of the wrist
HP:0003026Short long bone
HP:0003796Irregular iliac crest
HP:0008833Irregular acetabular roof
HP:0011470Nasogastric tube feeding in infancy
HP:0011471Gastrostomy tube feeding in infancy
HP:0100864Short femoral neck
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)