National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pyle disease


Other Names:
Metaphyseal dysplasia; Pyle's disease; Metaphyseal dysplasia Pyle type
Categories:
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]
Last updated: 6/9/2017

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.

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Medical Terms Other Names
Learn More:
HPO ID
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 ] 		0000684
Percent of people who have these symptoms is not available through HPO
Abnormality of the thorax
Abnormality of the chest
0000765
Absent paranasal sinuses
Missing paranasal sinuses
0002689
Arthralgia
Joint pain
0002829
Autosomal recessive inheritance 0000007
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Genu valgum
Knock knees
0002857
Hypoplastic frontal sinuses 0002738
Limited elbow extension
Decreased elbow extension
Elbow limited extension
Limitation of elbow extension
Limited extension at elbows
Limited forearm extension
Restricted elbow extension
[ more ] 		0001377
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] 		0000303
Metaphyseal dysplasia 0100255
Metaphyseal widening
Broad wide portion of long bone
0003016
Muscle weakness
Muscular weakness
0001324
Platyspondyly
Flattened vertebrae
0000926
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Scoliosis 0002650
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap
[ more ] 		0002684
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Last updated: 7/1/2020
Pyle disease in inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.[1][2] The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they often don't have any signs and symptoms of the condition. Some carriers (obligate heterozygotes) of Pyle disease show minor skeletal changes.[2]
Last updated: 9/16/2013

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Erlenmeyer flask deformity is also a prominent feature of the autosomal dominant Braun-Tinschert type of metaphyseal dysplasia (see this term). The two conditions can be distinguished by the mode of inheritance and by the presence of marked varus deformity of the distal part of the radii in Braun-Tinschert metaphyseal dysplasia.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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.

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  1. Pyle disease. Orphanet. June 2007; http://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; http://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/.