1. Mendelian
  2. Genes
  3. SFRP4

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.

Table of contents:

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

SOURCES: OMIM ORPHANET MESH


Potential gene panels for SFRP4 gene

SFRP4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SFRP4 gene.

More info about this panel
United States.

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