Spondyloperipheral Dysplasia-short Ulna Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloperipheral Dysplasia-short Ulna Syndrome

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Brachydactyly
  • Myopia
  • Talipes equinovarus
  • Kyphosis
  • Malar flattening
  • Midface retrusion

And another 35 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Spondyloperipheral Dysplasia-short Ulna Syndrome Is also known as spondyloperipheral dysplasia with short ulna.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE IIIA; USH3A

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more