1. Mendelian
  2. Rare Diseases
  3. CAFFEY DISEASE

Caffey Disease

Table of contents:

Description

Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.

Genes related to Caffey Disease

  • A4GALT
  • COL1A1

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Clinical Features

Top most frequent phenotypes and symptoms related to Caffey Disease

  • Short stature
  • Scoliosis
  • Pain
  • Fever
  • Abnormality of the skeletal system
  • Respiratory insufficiency
  • Edema
  • Behavioral abnormality
  • Hernia
  • Severe short stature

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.)
— The onset for some of the known clinical features related to this disease may vary, including infantile onset .

Alternative names

Caffey Disease Is also known as infantile cortical hyperostosis.

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.

Caffey Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
A4GALT.

By Fulgent Genetics Fulgent Genetics (United States).

A4GALT
Specificity
100 %
Genes
50 %

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.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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