Weismann-Netter-Stuhl Syndrome

Disease Overview

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.

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Synonyms

• anterior bowing of the legs with dwarfism
• skeletal dysplasia, Weismann Netter Stuhl type
• toxopachyosteose diaphysaire tibio-peroniere
• Weismann-Netter syndrome
• Weismann Netter Stuhl syndrome

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Signs & Symptoms

People with Weismann-Netter-Stuhl syndrome have various symptoms, but not all individuals will have every symptom listed:

• Short stature
• Bowing of the leg bones where the front of the tibia and fibula are curved
• Bowed thigh bones in cases where the femur is also affected
• Non-cancerous cartilage overgrowths on the tibia (exostoses)
• Bone malformations that may affect ribs, collarbone (clavicles), pelvis, arm bones (ulna and radius), hip bone, lower spine and rarely the skull (hyperostosis)
• Abnormal spine curvatures including:
  • Abnormal lateral curvature (scoliosis)
  • Inward curvature (lordosis)
  • Outward curvature (kyphosis)
• Delayed walking, as many affected children start walking later than usual, but the reason for this is unclear
• Teeth anomalies such as delayed eruption of permanent teeth (rare)
• Abnormal and distinctive X-ray anomalies

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.

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Causes

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.

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Affected populations

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.

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Disorders with Similar Symptoms

Weismann-Netter-Stuhl syndrome is considered a type of bent bone dysplasia. Several disorders can have symptoms like this syndrome, including the following:

• Campomelic dysplasia: This is a rare skeletal disorder with short stature and bowed long bones, present at birth.

• Vitamin-D deficiency rickets: This condition results from insufficient vitamin D, leading to soft bones and slow growth, often with bowed legs. Different from Weismann-Netter-Stuhl syndrome, it mainly affects the metaphyseal region (the center region) of bones and is associated with vitamin D deficiency, leading to thoracic and epiphyseal (the end of the bones) lesions.

• X-linked hypophosphatemia (XLH): This is a rare inherited disorder with impaired phosphate transport and vitamin-D activation, causing rickets and bowed legs.
• Hypophosphatasia (HPP): This is a rare genetic disorder with defective bone and teeth mineralization, leading to soft, easily fractured bones.
• Ollier disease: This is a rare disorder with abnormal bone development, causing cartilage tumors (enchondromas) and bowed limbs.

• Congenital syphilis: This is an infectious disease acquired from the mother during fetal development, leading to various symptoms including bowed legs. Different from Weismann-Netter-Stuhl syndrome, congenital syphilis causes bowing at the mid-tibial level with uniformly thickened cortex.

• Stüve-Wiedemann syndrome (SWS): This is a rare bone disease that is usually very severe, characterized by small stature, bowing of the long bones, camptodactyly, episodes of fevers, respiratory and feeding difficulties.
• Campomelia, Cumming type: This disorder ischaracterized by the association of limb defects and anomalies in several organs.

There are many other disorders that may cause similar symptoms to Weismann-Netter-Stuhl syndrome including occipital horn syndrome, Paget disease, osteogenesis imperfecta, renal osteodystrophy, tibia vara (Blount disease), fibrous dysplasia, achondroplasia, neurofibromatosis, congenital bowing of certain bones and developmental bowing of certain bones. However, these disorders have their own distinctive features. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.)

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Diagnosis

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.

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Standard Therapies

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.

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Clinical Trials and Studies

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/

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References

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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