ORPHA:93351
Spondyloepimetaphyseal dysplasia, Irapa type
Also called SEMD, Irapa type
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:93351 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Pectus carinatum
- Abnormal rib morphology
- Platyspondyly
- Abnormal metaphysis morphology
- Broad palm
- Gait disturbance