Spondyloepiphyseal Dysplasia Congenita

Description

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

Clinical Features

Top most frequent phenotypes and symptoms related to Spondyloepiphyseal Dysplasia Congenita

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Cleft palate
  • Cataract
  • Myopia
  • Talipes equinovarus
  • Short neck

And another 15 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Spondyloepiphyseal Dysplasia Congenita have a estimated birth prevalence of 1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Spondyloepiphyseal Dysplasia Congenita Is also known as congenital spondyloepiphyseal dysplasia, spranger-wiedemann disease, sedc.

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.

ORPHANET 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 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1; SCAR1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more