Spondyloepimetaphyseal dysplasia, Irapa type

Orpha code: 93351OMIM code: 271650

Definition

Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.

Disease data
Classification

Disease

Synonyms
SEMD, Irapa type
SEMD typu Irapa
SEMD, typ Irapa
ORPHA code
93351
OMIM code
271650
ICD10 code
Q77.7
ICD11 code
-

No additional description.

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