Spondyloepiphyseal Dysplasia Congenita
Table of contents:
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.
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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.Sources and references
You can check the following sources for additional information.
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