8q24.3 Deletion Syndrome

Description

Verheij syndrome (VRJS) is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects (summary by Verheij et al., 2009 and Dauber et al., 2013).

Clinical Features

Top most frequent phenotypes and symptoms related to 8q24.3 Deletion Syndrome

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape
  • High palate

And another 38 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.

Alternative names

8q24.3 Deletion Syndrome Is also known as del(8)(q24.3), deletion 8q24.3, chromosome 8q24.3 deletion syndrome, verheij syndrome, monosomy 8q24.3.

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.

8q24.3 Deletion Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PUF60.

By Fulgent Genetics Fulgent Genetics (United States).

PUF60
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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