Spondyloepiphyseal Dysplasia Congenita; Sedc
Description
Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).
Clinical Features
Top most frequent phenotypes and symptoms related to Spondyloepiphyseal Dysplasia Congenita; Sedc
- Intellectual disability
- Short stature
- Generalized hypotonia
- Hearing impairment
- Scoliosis
- Growth delay
- Hypertelorism
- Nystagmus
- Sensorineural hearing impairment
- Muscle weakness
And another 74 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Spondyloepiphyseal Dysplasia Congenita; Sedc Is also known as sed congenita, spondyloepiphyseal dysplasia, congenital type.
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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