What does ADCL mean in UNCLASSIFIED
ADCL is an abbreviation used to refer to Autosomal Dominant Cutis Laxa, also known as Loose Skin Syndrome. This is a rare genetic disorder, primarily characterized by abnormally loose and sagging skin, particularly on the face and limbs. Other symptoms may include joint laxity, arterial aneurysms, scoliosis, hernias, and respiratory complications. ADCL is caused by mutations in the ELN gene carried on chromosome 1 in humans.
ADCL meaning in Unclassified in Miscellaneous
ADCL mostly used in an acronym Unclassified in Category Miscellaneous that means Autosomal Dominant Cutis Laxa
Shorthand: ADCL,
Full Form: Autosomal Dominant Cutis Laxa
For more information of "Autosomal Dominant Cutis Laxa", see the section below.
What is Autosomal Dominant Cutis Laxa
Autosomal Dominant Cutis Laxa (ADCL) is a rare genetic disorder that affects the elastic fibers of the skin which results in abnormally loose and sagging skin, predominantly on the face and limbs. This condition often occurs along with joint laxity, arterial aneurysms, scoliosis or curvature of the spine and hernias. ADCL is inherited as an autosomal dominant pattern which means that each individual has one copy of the mutated gene that causes this condition and typically one parent carries the mutation.
Symptoms
The primary symptom of Autosomal Dominant Cutis Laxa is abnormal looseness or sagging of the skin on various parts of the body including the face, arms, legs and abdomen. Other symptoms can include joint laxity leading to frequent sprains or dislocations; artery abnormalities such as aneurysms; hernia development; hypermobility as well as respiratory complications such as pneumonia or pulmonary hypertension.
Diagnosis
ADCL is diagnosed with a thorough clinical evaluation including family history followed by genetic testing for confirmation if needed. A molecular test using direct sequencing can be done to detect mutations in ELN gene which causes this condition although not all individuals with ADCL have detectable mutations. Prenatal diagnosis is also possible before birth if there is a family history of ADCL.
Treatment
Although there's currently no cure for this condition treatments are available to manage its symptoms and improve quality of life. Physical therapy plays an important role in managing joint laxity while medications like diuretics may help reduce swelling resulting from fluid accumulation due to weak connective tissue structure around blood vessels reducing their risk for rupturing or forming aneurysms. Skin conditioning products containing antioxidants can help maintain healthy looking skin while surgery may be needed for some individuals if they have significant scoliosis or hernias.
Essential Questions and Answers on Autosomal Dominant Cutis Laxa in "MISCELLANEOUS»UNFILED"
What is Autosomal Dominant Cutis Laxa?
Autosomal Dominant Cutis Laxa (ADCL) is a rare genetic disorder that affects the skin, blood vessels and lungs of the body. It results in loose, thinning skin that is fragile and prone to bruising. ADCL can also cause lung problems such as emphysema and bronchitis.
What are the common signs and symptoms of ADCL?
Common signs and symptoms of ADCL include loose, thinned skin with wrinkles, especially around the eyes, elbows, knees and knuckles; fragile skin that bruises easily; mottled patches of discolored or purplish skin; abnormally large nostrils; short stature; respiratory problems such as recurrent bronchitis; failure to thrive in infancy; joint contractures; developmental delays; muscle wasting.
Are there any treatments available for ADCL?
Unfortunately, there is no cure for ADCL, but there are treatments available to manage some of its symptoms. These may include physical therapy to improve mobility and flexibility; medications to prevent or reduce breathing problems associated with the disorder; surgery to correct joint contractures or other deformities.
Is ADCL inherited?
Yes, ADCL is inherited as an autosomal dominant trait which means it only takes one affected parent for a child to be affected by the disorder.
How common is Autosomal Dominant Cutis Laxa?
Autosomal Dominant Cutis Laxa (ADCL) is a rare disorder that affects an estimated 1 in 50,000 people worldwide.
Final Words:
Autosomal Dominant Cutis Laxa (ADCL) is a rare genetic disorder that affects elastic fibers in connective tissue causing abnormally loose and sagging skin primarily on facial areas and limbs as well other related issues like joint laxity arterial aneurysms scoliosis and hernias among others. A thorough clinical evaluation followed by genetic testing can help make a confirmed diagnosis while physical therapy medication skin care products and surgery are some treatment options available for managing its symptoms.