Metatropic dysplasia

Orpha code: 2635OMIM code: 156530

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
Metatropic dwarfism
Karłowatość metatropiczna
Kod ORPHA
2635
Kod OMIM
156530
Kod ICD10
Q77.8
Kod ICD11
LD24.3

No additional description.

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