Spondyloepimetaphyseal Dysplasia, Shohat Type
Description
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.
Clinical Features
Top most frequent phenotypes and symptoms related to Spondyloepimetaphyseal Dysplasia, Shohat Type
- Short stature
- Scoliosis
- Pain
- Depressed nasal bridge
- Hepatomegaly
- Gait disturbance
- Short neck
- Splenomegaly
- Severe short stature
- Arthralgia
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 .
Alternative names
Spondyloepimetaphyseal Dysplasia, Shohat Type Is also known as semd, shohat 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.Spondyloepimetaphyseal Dysplasia, Shohat Type Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 DDRGK1.
By Fulgent Genetics Fulgent Genetics (United States).
DDRGK1
Specificity
100 %
Genes
100 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM ORPHANET Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RENAL CYSTS AND DIABETES SYNDROME; RCAD PANCREATIC LIPASE DEFICIENCY; PNLIPD HYPERLIPOPROTEINEMIA, TYPE V EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME; EHLMRS DYSTONIA 27; DYT27 EHLERS-DANLOS SYNDROME TYPE 1