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A bone dysplasia characterized 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.
Features include always present findings: Metaphyseal widening, Low bone density (reduced bone mineral density), and Thin bony cortex; and common findings: Genu valgum and Absent paranasal sinuses. 19 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 3 | Sideways curvature of the spine (scoliosis), Arthralgia, Low bone density (reduced bone mineral density) |
SFRP4 function has not been fully characterized.
Pyle disease is associated with mutations in the SFRP4 gene on chromosome 7.
Genetic testing for SFRP4 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Pyle disease has been reported in the published literature.
Phenotype severity distribution: 3 always present features, 2 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Pyle disease.
152 publications have been identified in PubMed for Pyle disease. Research spans Review / Meta-Analysis (57%), Case Report / Case Series (17%), and Basic Science / Preclinical (16%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 86 | 57% |
Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 7:12 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Muscles |
1 |
Muscle weakness |
Head and neck | 1 | Mandibular prognathia |
26 |
17% |
Laboratory research | 25 | 16% |
Disease patterns and progression | 9 | 6% |
Other research | 4 | 3% |
Testing and diagnosis research | 1 | 1% |
New treatment approaches | 1 | 1% |
Buel KL (2026). [PMID: 41569909](https://pubmed.ncbi.nlm.nih.gov/41569909/). *FP Essent*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Gene Therapy / Novel Therapeutics]
Serpieri V (2026). [PMID: 41720098](https://pubmed.ncbi.nlm.nih.gov/41720098/). *Am J Hum Genet*. [Basic Science / Preclinical]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Insalaco A (2026). [PMID: 41616907](https://pubmed.ncbi.nlm.nih.gov/41616907/). *Eur J Med Genet*. [Case Report / Case Series]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Halis M (2026). [PMID: 41549465](https://pubmed.ncbi.nlm.nih.gov/41549465/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Valdés-Fernández J (2026). [PMID: 41545352](https://pubmed.ncbi.nlm.nih.gov/41545352/). *Bone Res*. [Basic Science / Preclinical]
Matsushita Y (2026). [PMID: 41493228](https://pubmed.ncbi.nlm.nih.gov/41493228/). *J Bone Miner Res*. [Basic Science / Preclinical]
Sarra G (2026). [PMID: 41673565](https://pubmed.ncbi.nlm.nih.gov/41673565/). *J Dent Res*. [Basic Science / Preclinical]
AI-curated news mentioning Pyle disease
Updated Jul 30, 2026
Recent research validates disease-causing missense variants in the SFRP4 gene associated with Pyle disease. This study enhances understanding of the genetic underpinnings of the condition.