Spondyloepimetaphyseal dysplasia, Missouri type

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: SEMD type 2 | SEMD, Missouri type | Spondyloepimetaphyseal dysplasia type 2

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

Newly diagnosed with
Spondyloepimetaphyseal dysplasia, Missouri type?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.