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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