Camptodactyly joint contractures facial skeletal dysplasia
Camptodactyly Joint Contractures Facial Skeletal Dysplasia is a rare genetic disorder characterized by several distinct physical features and skeletal abnormalities. This condition is part of a group of disorders known as skeletal dysplasias, which affect the growth and development of bones and cartilage.
Symptoms and Characteristics[edit | edit source]
The primary features of Camptodactyly Joint Contractures Facial Skeletal Dysplasia include:
- Camptodactyly: A condition where one or more fingers are permanently bent.
- Joint contractures: Limitations in the range of motion of joints due to the abnormal shortening of muscles or tendons.
- Facial skeletal dysplasia: Abnormalities in the development of the facial bones, leading to distinctive facial features.
Additional symptoms may include:
- Scoliosis: A sideways curvature of the spine.
- Abnormalities in the development of the long bones.
These features can lead to difficulties in movement and daily functioning.
Causes[edit | edit source]
Camptodactyly Joint Contractures Facial Skeletal Dysplasia is a genetic condition typically inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. However, cases with no known family history have been reported, suggesting the possibility of new mutations or autosomal recessive inheritance.
Diagnosis[edit | edit source]
Diagnosis is based on:
- A thorough clinical examination to identify characteristic features.
- Imaging studies such as X-rays to reveal skeletal abnormalities.
- Genetic testing to identify mutations in specific genes associated with the disorder, although the responsible genes may not be identified in all cases.
Treatment[edit | edit source]
There is no cure for Camptodactyly Joint Contractures Facial Skeletal Dysplasia. Treatment focuses on managing symptoms and improving quality of life:
- Physical therapy and occupational therapy to maintain joint mobility and function.
- Surgery to correct deformities or improve mobility, if necessary.
- Orthopedic devices such as braces or splints to support joints and limbs.
Prognosis[edit | edit source]
The prognosis for individuals with this condition varies depending on the severity of symptoms and the extent of skeletal involvement. With appropriate management, many individuals can lead active and fulfilling lives.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Camptodactyly joint contractures facial skeletal dysplasia is a rare disease.
| Camptodactyly joint contractures facial skeletal dysplasia 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
