Dysosteosclerosis

Description

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Clinical Features

Top most frequent phenotypes and symptoms related to Dysosteosclerosis

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia
  • High palate
  • Macrocephaly

And another 60 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.)
No data available about the known clinical features onset.

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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Dysosteosclerosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
SLC29A3 sequencing.

By Genetic Services Laboratory University of Chicago (United States).

SLC29A3
Specificity
100 %
Genes
100 %
SLC29A3 deletion/duplication analysis.

By Genetic Services Laboratory University of Chicago (United States).

SLC29A3
Specificity
100 %
Genes
100 %
SLC29A3.

By Institute for Human Genetics University Clinic Freiburg (Germany).

SLC29A3
Specificity
100 %
Genes
100 %
SLC29A3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

SLC29A3
Specificity
100 %
Genes
100 %
Histiocytosis-lymphadenopathy plus syndrome (sequence analysis of SLC29A3 gene).

By CGC Genetics (Portugal).

SLC29A3
Specificity
100 %
Genes
100 %
Histiocytosis-Lymphadenopathy Plus Syndrome via SLC29A3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC29A3
Specificity
100 %
Genes
100 %
Histiocytosis-lymphadenopathy plus syndrome.

By Centogene AG - the Rare Disease Company (Germany).

SLC29A3
Specificity
100 %
Genes
100 %

We have 16 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM 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 SHASHI-PENA SYNDROME; SHAPNS OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP GALACTOSE EPIMERASE DEFICIENCY

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