Metatropic dysplasia

Orpha code: 2635OMIM code: 156530

Definition

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
Classification

Disease

Synonyms
Metatropic dwarfism
Karłowatość metatropiczna
ORPHA code
2635
OMIM code
156530
ICD10 code
Q77.8
ICD11 code
LD24.3

No additional description.

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