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.
Genes related to Pyle Disease
Clinical FeaturesTop most frequent phenotypes and symptoms related to Pyle Disease
- Muscle weakness
- Abnormality of the skeletal system
- Mandibular prognathia
- 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.
Pyle Disease Is also known as metaphyseal dysplasia, metaphyseal dysplasia, pyle type.
Researches and researchersCurrently, 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|
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -7 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM ORPHANET MESH Rare Disease Symptoms Checker
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THREE M SYNDROME 3; 3M3 PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 UROFACIAL SYNDROME 1; UFS1