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Метатропна дисплазія

ORPHA:2635· ICD-10 Q77.8· Metatropic dysplasia

Визначення(English summary)

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant, Not applicable
Вік початку
Antenatal, Neonatal