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.
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 moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE; THPH2 MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 FUMARASE DEFICIENCY; FMRD