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.

Click here to know more about Mendelian.

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.

OMIM MESH 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 NEPHRONOPHTHISIS 1; NPHP1 MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C TYPICAL NEMALINE MYOPATHY FG SYNDROME 4; FGS4 LESCH-NYHAN SYNDROME CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If; CDG1F HOLOPROSENCEPHALY 9; HPE9