Spondyloepimetaphyseal Dysplasia, Shohat Type
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Genes related to Spondyloepimetaphyseal Dysplasia, Shohat Type
Clinical FeaturesTop most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia, Shohat Type
- Short stature
- Depressed nasal bridge
- Gait disturbance
- Short neck
- Severe short stature
And another 40 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.)
— The onset for some of the known clinical features related to this disease may vary, including infantile onset .
Spondyloepimetaphyseal Dysplasia, Shohat Type Is also known as semd, shohat type.
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.
Spondyloepimetaphyseal Dysplasia, Shohat Type Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -7 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.MESH OMIM ORPHANET Genetic Syndrome Finder
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LUSCAN-LUMISH SYNDROME; LLS OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 HYPERKALEMIC PERIODIC PARALYSIS EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE; EPM4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6 SECKEL SYNDROME 10; SCKL10