Spondyloepiphyseal Dysplasia Congenita
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
Genes related to Spondyloepiphyseal Dysplasia Congenita
Clinical FeaturesTop most frequent phenotypes and symptoms related to Spondyloepiphyseal Dysplasia Congenita
- Short stature
- Hearing impairment
- Cleft palate
- Talipes equinovarus
- Short neck
And another 15 symptoms. If you need more information about this disease we can help you.
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.
Spondyloepiphyseal Dysplasia Congenita Is also known as congenital spondyloepiphyseal dysplasia, spranger-wiedemann disease, sedc.
Researches and researchersCurrently, 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.ORPHANET Rare Disease Symptoms Checker
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