Grange Syndrome

Description

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

Clinical Features

Top most frequent phenotypes and symptoms related to Grange Syndrome

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain
  • Hypertension
  • Brachydactyly
  • Ventricular septal defect
  • Cardiomyopathy
  • Renal insufficiency

And another 25 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

Grange Syndrome Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly, grange occlusive arterial syndrome, progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome.

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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Grange Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
YY1AP1.

By Fulgent Genetics Fulgent Genetics (United States).

YY1AP1
Specificity
100 %
Genes
100 %
FoundationOneĀ® Heme.

By Foundation Medicine, Inc. (United States).

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 374 more genes
Specificity
1 %
Genes
100 %

We have -6 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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