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Disease Profile

Pyle disease

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

Metaphyseal dysplasia; Pyle's disease; Metaphyseal dysplasia Pyle type


Congenital and Genetic Diseases; Musculoskeletal Diseases


Pyle disease is a bone disorder characterized by knock knees (genu valgum), relative constriction of the diaphysis or shaft of the bone and flaring of the metaphysis or end of the bone (Erlenmeyer flask deformity), widening of the ribs and collarbones, flattening of the bones of the spine (platyspondyly), and thinning of outer (cortical) layer of bone. Other findings may include excessive bone formation of the skull. Pyle disease is caused by mutations in the SFRP4 gene and is inherited in an autosomal recessive manner.[1][2][3] Treatment may include management of resulting bone fractures and other orthopedic concerns.[4]


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
5%-29% of people have these symptoms
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

Percent of people who have these symptoms is not available through HPO
Abnormal thorax morphology
Abnormality of the chest
Absent paranasal sinuses
Missing paranasal sinuses
Joint pain
Autosomal recessive inheritance
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

Genu valgum
Knock knees
Hypoplastic frontal sinuses
Limited elbow extension
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension

[ more ]

Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw

[ more ]

Metaphyseal dysplasia
Metaphyseal widening
Broad wide portion of long bone
Muscle weakness
Muscular weakness
Flattened vertebrae
Reduced bone mineral density
Low solidness and mass of the bones
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap

[ more ]


Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Pyle disease. Click on the link to view a sample search on this topic.


  1. Pyle disease. Orphanet. June 2007; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3005.
  2. Gupta N, Kabra M, Das CJ, Gupta AK. Pyle Metaphyseal Dysplasia. Indian Pediatrics. April 17, 2008; https://www.indianpediatrics.net/apr2008/323.pdf.
  3. Pyle disease. Genetics Home Reference. March 2017; https://ghr.nlm.nih.gov/condition/pyle-disease.
  4. Soares DX, Almeida AM, Barreto ARF, et al. Pyle disease (metaphyseal dysplasia) presenting in two adult sisters. Radiol Case Rep. December 2016; 11(4):405-410. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5128518/.

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