Mega-epiphyseal dwarfism
Mega-epiphyseal dwarfism is a rare genetic disorder characterized by short stature, large joints, and specific radiographic features. It is also known as Multiple epiphyseal dysplasia, MED, or Fairbank's disease.
Etiology[edit | edit source]
Mega-epiphyseal dwarfism is caused by mutations in the COL9A1, COL9A2, COL9A3, COMP, MATN3, and SLC26A2 genes. These genes are involved in the formation of cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most of these mutations change single amino acids in cartilage components, which can alter the structure and stability of the cartilage.
Symptoms[edit | edit source]
The most common symptom of mega-epiphyseal dwarfism is short stature. Other symptoms may include large joints, a waddling gait, early-onset arthritis, and limited range of motion. Some individuals may also have mild scoliosis, flat feet, and outward-turned knees.
Diagnosis[edit | edit source]
Diagnosis of mega-epiphyseal dwarfism is based on physical examination, patient history, and radiographic findings. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
There is currently no cure for mega-epiphyseal dwarfism. Treatment is symptomatic and supportive, and may include physical therapy, pain management, and, in some cases, surgery to correct bone abnormalities.
Prognosis[edit | edit source]
The prognosis for individuals with mega-epiphyseal dwarfism varies. Some individuals may have a normal lifespan with few complications, while others may experience significant health problems related to the disorder.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Mega-epiphyseal dwarfism is a rare disease.
Template:Congenital disorders
Template:Skeletal disorders
 | This medical article is a stub. You can help WikiMD by expanding it. |
Translate: - 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
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Admin, Prab R. Tumpati, MD
