Spondyloperipheral dysplasia-short ulna syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Spondyloperipheral dysplasia-short ulna syndrome

Spondyloperipheral dysplasia-short ulna syndrome is a rare genetic primary bone dysplasia with highly variable phenotype typically characterized by platyspondyly brachydactyly type E changes (short metacarpals and metatarsals short distal phalanges in hands and feet) bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia degenerative changes in proximal femora limited elbow extension bilateral sacralization of L5 clubfeet) as well as myopia hearing loss and intellectual disability.

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 December 2023

Newly diagnosed with
Spondyloperipheral dysplasia-short ulna syndrome?

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

Clinical Trials

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