SFRP4 gene related symptoms and diseases
All the information presented here about the SFRP4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SFRP4 gene
Symptoms // Phenotype | % Cases |
---|---|
Scoliosis | Very Common - Between 80% and 100% cases |
Increased susceptibility to fractures | Very Common - Between 80% and 100% cases |
Craniofacial osteosclerosis | Very Common - Between 80% and 100% cases |
Hypoplastic frontal sinuses | Very Common - Between 80% and 100% cases |
Thickened calvaria | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SFRP4 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Metaphyseal dysplasia
- Limited elbow extension
- Cubitus valgus
- Abnormality of the thorax
- Metaphyseal widening
- Reduced bone mineral density
- Muscle weakness
- Delayed eruption of teeth
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SFRP4 gene
Here you will find a list of rare diseases related to the SFRP4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
PYLE DISEASE
Alternate names
PYLE DISEASE Is also known as metaphyseal dysplasia, metaphyseal dysplasia, pyle type
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.
Most common symptoms of PYLE DISEASE
- Scoliosis
- Muscle weakness
- Pain
- Abnormality of the skeletal system
- Mandibular prognathia
More info about PYLE DISEASE
Search interest in SFRP4
Potential gene panels for SFRP4 gene
SFRP4 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SFRP4 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like COX8A HES7 RMRP SERPINA1 EPM2A F11 MYBPC1