King Denborough syndrome

What causes King-Denborough syndrome?

The cause of King-Denborough syndrome is not fully understood. At least a portion of the cases may be due to mutations in the ryanodine receptor gene (RYR1).

Last updated on 05-01-20

Is King-Denborough syndrome inherited?

The presence of a myopathy associated with a prediposition to malignant hyperthermia suggests an autosomal dominant pattern of inheritance with variable expression (the altered gene is expressed in different ways in different people).

Last updated on 05-01-20

What is King-Denborough syndrome?

The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia, skeletal abnormalities and dysmorphic features with characteristic facial appearance. Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor gene (RYR1), which has been tied to malignant hyperthermia and central core disease.

Last updated on 05-01-20

What are the features of King-Denborough syndrome?

The features of King-Denborough syndrome include mild but slowly progressive weakness, short stature, kyphoscoliosis, pectus carinatum or excavatum, facial and skeletal deformities, susceptibility to malignant hyperthermia, and acquired joint contractures. Other features may include ptosis, low-set ears, cryptorchidism, lumbar lordosis and thoracic kyphosis, downslanting palpebral fissures (eyes that point downward), micrognathia, crowded teeth, short webbed neck, and cleft palate or high arched palate. Individuals with King-Denborough syndrome may also have mild or nonspecific abnormalities on muscle biopsy.

Last updated on 05-01-20

Where can I learn more about King-Denborough syndrome?

You can find relevant journal articles on King-Denborough syndrome through a service called PubMed, a searchable database of medical literature. Information on finding an article and its title, authors, and publishing details is listed here. Some articles are available as a complete document, while information on other studies is available as a summary abstract. To obtain the full article, contact a medical/university library (or your local library for interlibrary loan), or order it online using the following link. Using "King-Denborough syndrome" as your search term should locate articles. To narrow your search, click on the “Limits” tab under the search box and specify your criteria for locating more relevant articles. Click here to view a search.
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

The National Library of Medicine (NLM) Web site has a page for locating libraries in your area that can provide direct access to these journals (print or online). The Web page also describes how you can get these articles through interlibrary loan and Loansome Doc (an NLM document-ordering service). You can access this page at the following link http://nnlm.gov/members/. You can also contact the NLM toll-free at 888-346-3656 to locate libraries in your area.

Last updated on 05-01-20

Are there any advocacy organizations for individuals and families with King- Denborough syndrome?

Additional information and supportive resources for King-Denborough syndrome can be obtained from the following organization.

Malignant Hyperthermia Association of the United States
11 East State St
PO Box 1069
Sherburne, NY 13460
Toll-free: (800) 644-9737 or (888) 274-7899
Phone: (607) 674-7901
Email: info@mhaus.org
Web: http://patients.mhaus.org/

Last updated on 05-01-20

What is the prognosis for individuals with King-Denborough syndrome?

Facial and proximal limb weakness may become more pronounced with increasing age. Thoracic kyphosis, lumbar lordosis, and scoliosis often develop as the condition progresses.

Last updated on 05-01-20

Name: Malignant Hyperthermia Association of the United States (MHAUS) 1 North Main ST PO Box 1069
Sherburne, NY, 13460, United States
Phone: +1-607-674-7901 (none emergency) Toll Free: 1-800-644-9737 (for emergencies, 24 hour) Email: info@mhaus.org Url: https://www.mhaus.org/ For emergencies outside of North America, call 001-209-417-3722

Connect with other users with King Denborough syndrome on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App