Spondyloepimetaphyseal dysplasia, Missouri type

Orpha code: 93356OMIM code: 602111

Definition

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

Disease data
Classification

Disease

Synonyms
SEMD type 2
SEMD typu 2
SEMD, typ Missouri
Spondyloepimetaphyseal dysplasia type 2
SEMD, Missouri type
Spondyloepimetaphyseal dysplasia type 2
ORPHA code
93356
OMIM code
602111
ICD10 code
Q77.7
ICD11 code
-

No additional description.

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