Moeschler–Clarren syndrome
Moeschler–Clarren syndrome is a rare genetic disorder characterized by multiple congenital anomalies, intellectual disability, and growth retardation. The syndrome was first described by John B. Moeschler and Stephen J. Clarren in 1988.
Clinical Features[edit | edit source]
The clinical features of Moeschler–Clarren syndrome vary widely among affected individuals. Common features include microcephaly (small head size), hypotonia (low muscle tone), cleft palate, hearing loss, and visual impairment. Other features may include cardiac defects, skeletal abnormalities, and neurological problems such as seizures and developmental delay.
Genetics[edit | edit source]
Moeschler–Clarren syndrome is thought to be caused by mutations in an unknown gene. It is inherited in an autosomal recessive manner, which means both copies of the gene in each cell must have mutations for an individual to be affected. Most cases are thought to result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development.
Diagnosis[edit | edit source]
Diagnosis of Moeschler–Clarren syndrome is based on clinical features and may be confirmed by genetic testing. However, because the genetic cause of the syndrome is not yet known, genetic testing may not always be able to confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for Moeschler–Clarren syndrome. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and educational support. Individuals with the syndrome may also require treatment for specific symptoms such as seizures, hearing loss, and cardiac defects.
Prognosis[edit | edit source]
The prognosis for individuals with Moeschler–Clarren syndrome varies depending on the severity of symptoms. Some individuals may have mild symptoms and live into adulthood, while others may have severe symptoms and a shortened lifespan.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Moeschler–Clarren syndrome is a rare disease.
| Moeschler–Clarren syndrome Resources | |
|---|---|
|
 |
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
