Spondyloepimetaphyseal dysplasia, Irapa type
ORPHA:93351· ICD-10 Q77.7
Definition
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 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. There have been no further description in the literature since 1981.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood