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.

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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.


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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 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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