Pyle Disease

Description

Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.

Clinical Features

Top most frequent phenotypes and symptoms related to Pyle Disease

  • Scoliosis
  • Muscle weakness
  • Pain
  • Abnormality of the skeletal system
  • Mandibular prognathia
  • Arthralgia
  • Platyspondyly
  • Carious teeth
  • Genu valgum
  • Delayed eruption of teeth

And another 11 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

Pyle Disease Is also known as metaphyseal dysplasia, metaphyseal dysplasia, pyle 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.

Pyle Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SFRP4.

By Fulgent Genetics Fulgent Genetics (United States).

SFRP4
Specificity
100 %
Genes
100 %

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

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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