Last updated:
8/7/2024
Years published: 1996, 2003, 2017, 2024
NORD gratefully acknowledges Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders and Maarit Peippo, MD, Consultant in Medical Genetics, University of Helsinki, Finland, for assistance in the preparation of this report.
Summary
Weismann-Netter-Stuhl syndrome is a very rare genetic disorder that affects the bones, leading to abnormal development known as osseous dysplasia. People with this condition typically have bowed legs affecting the shinbone (tibia) and the smaller bone below the knee (fibula). Other bones like the ribs, pelvis, spine and arm bones may also be affected. People affected with this syndrome are usually shorter than expected for their age and gender.
The exact cause is not known but it is thought to be related to changes (variants) in a gene and inherited in an autosomal dominant manner.
Treatment may include surgery to correct the bone anomalies when needed.
People with Weismann-Netter-Stuhl syndrome have various symptoms, but not all individuals will have every symptom listed:
Additional symptoms may include intellectual disabilities, an enlarged thyroid (goiter) and low levels of red blood cells (anemia). However, these symptoms may not be directly caused by the condition.
The cause of Weismann-Netter-Stuhl syndrome is currently unknown. It is thought that it is likely due to a change (variant) in a gene, but no specific gene has been identified.
Reports in the medical literature indicate that this condition may be inherited in an autosomal dominant pattern. Dominant genetic disorders occur when only a single copy of a disease-causing gene variant is necessary to cause the disease. The gene variant can be inherited from either parent or can be the result of a new (de novo) changed gene in the affected individual that is not inherited. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.
Weismann-Netter-Stuhl syndrome is extremely rare and affects both males and females equally. As of 2024, approximately 70 cases have been reported in the medical literature since the disorder was first described in 1954.
This disorder can be difficult to diagnose due to its rarity and similarity to several other conditions. In addition, many patients do not have any complaints and it is often discovered incidentally.
Diagnosing Weismann-Netter-Stuhl syndrome involves X-ray studies that reveal distinctive bone abnormalities such as bowing of the long bones, lateral bowing of the femur, thickened outer layers of bones and widened bone marrow cavities.
Blood exams to check calcium, serum phosphate and alkaline phosphatase levels help differentiate Weismann-Netter-Stuhl syndrome from conditions like congenital syphilis and rickets because people with Weismann-Netter-Stuhl syndrome have persistent high serum alkaline phosphatase levels. These other diseases also typically involve more extensive skeletal issues.
There is no cure or specific treatment. Many people with this condition do not have any complaints. Current treatment for Weismann-Netter-Stuhl syndrome focuses on managing specific symptoms. This may include physical therapy and other supportive medical, social or vocational services.
Surgery may be considered if skeletal abnormalities significantly affect leg function, although it is not always necessary.
Decisions on treatment vary depending on factors such as the individual’s age, severity of bone malformations, overall health and personal preferences.
Genetic counseling can be helpful for affected individuals and their families.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov . All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, in the main, contact:
www.centerwatch.com
For more information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
TEXTBOOKS
Samara AM, Fernandes SR. Weismann-Netter-Stuhl syndrome. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:268.
Kozlowski K, Beighton P, eds. Weismann-Netter-Stuhl Syndrome (Toxopachyosteose Diaphysaire Tibio-peroniere). In: Gamut Index of Skeletal Dysplasias: An Aid to Radiodiagnosis. 4th ed. Springer-Verlag, New York, NY; 1984:177.
JOURNAL ARTICLES
Gupta P, Mittal R, Mittal S, Shankar V. Weismann-Netter-Stuhl syndrome: report of two cases and treatment. BMJ Case Report. 2014;2014. https://www.ncbi.nlm.nih.gov/pubmed/24496066
Hayrullah A, Atabek ME, Pirgon O. Weismann-Netter-Stuhl syndrome: a family report. J Clin Res Pediatr Endocrinol. 2009;1:194-196. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005653/
Peippo M, Valanne L, Perhoma M, Toivanen L, Ignatius J. Weismann-Netter syndrome and mental retardation: a new patient and review of the literature. Am J Med Genet. 2009;149A:2593-2601. https://www.ncbi.nlm.nih.gov/pubmed/19839038
Yekeler E, Ozdemir C, Gokalp S, et al. Weismann-Netter-Stuhl syndrome in two siblings. Skeletal Radiol. 2005;34:176-179. https://www.ncbi.nlm.nih.gov/pubmed/15538562
Cheema JI, Grissom LE, Harcke HT. Radiographic characteristics of lower-extremity bowing in children. Radiographics. 2003;23:871-880. https://www.ncbi.nlm.nih.gov/pubmed/12853662
Coimbra AV, Filardi S, Fernandez SR, Marques-Neto JF, Samara AM. Weismann-Netter-Stuhl syndrome: first Brazilian case reports. Joint Bone Spine. 2000;67:539-43. https://www.ncbi.nlm.nih.gov/pubmed/11195318
Kurtoglu S, Dundar M, Kumandas S, et al. Patient with Weismann-Netter and Stuhl (toxopachyosteosis) syndrome with communicant hydrocephalus and arachnoid cyst. J Pediatr Endocrinol Metab. 2000;13:211-15. https://www.ncbi.nlm.nih.gov/pubmed/10711669
Nores JM, Monsegu SH, de Masfraud V, et al. Tibioperoneal diaphyseal toxopachyosteosis or Weismann-Netter-Stuhl syndrome: difficulties encountered in classifying this syndrome and differentiation from rickets. Clin Exp Rheumatol. 19997;15:105-09. https://www.ncbi.nlm.nih.gov/pubmed/9093784
Nores JM, Monsegu SH, de Masfraud V, et al. Identification and classification of tibioperoneal diaphyseal toxopachyosteosis (Weismann-Netter-Stuhl syndrome): based on two new cases and a review of the literature. Eur J Radiol. 1997;24:71-76. https://www.ncbi.nlm.nih.gov/pubmed/9056154
Tieder M, Manor H, Peshin J, Alon US. The Weismann-Netter, Stuhl syndrome: a rare pediatric skeletal dysplasia. Pediatr Radiol. 1995;25:37-40. https://www.ncbi.nlm.nih.gov/pubmed/7761160
Hary S, Houvenagel E, Vincent G, Reiner JC. Weismann-Netter and Stuhl toxopachyosteosis. Apropos of 30 cases. Rev Rheum Mal Osteoartic. 1992;59:65-71. https://www.ncbi.nlm.nih.gov/pubmed/1579848
Hary S, Houvenagel E, Vincent G. A case of Weismann-Netter and Stuhl toxopachyosteosis with new bone sites. Rev Rhum Mal Osteoartic. 1992;59:73-75. https://www.ncbi.nlm.nih.gov/pubmed/1579849
Robinow M, Johnson GF. The Weismann-Netter syndrome. Am J Med Genet. 1988;29:573-79. https://www.ncbi.nlm.nih.gov/pubmed/3377000
INTERNET
McKusick VA., ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No:112350; Last Update:10/13/2016. Available at: https://www.omim.org/entry/112350 Accessed August 7, 2024.
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Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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