Спондилометафізарна дисплазія, тип Шмідта
ORPHA:93316· ICD-10 Q77.8· Spondylometaphyseal dysplasia, Schmidt type
Визначення(English summary)
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant
- Вік початку
- Adolescent, Childhood, Infancy