What is Cutis Laxa, Autosomal Recessive?
Cutis Laxa, Autosomal Recessive is a rare genetic connective tissue disorder. It affects the connective tissue in the skin, heart, blood vessels, joints, intestines, and lungs.
There are autosomal dominant and autosomal recessive forms of the syndrome. The forms of the syndrome inherited in a recessive pattern tend to present with more severe symptoms.
What gene change causes Cutis Laxa, Autosomal Recessive?
Changes in the APP6V0A2, EFEMP2, ELN, FBLN5, PYCR1 and LTBP4 among other 7 genes are responsible for the syndrome in autosomal recessive inheritance.
This form of the syndrome is inherited in an autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
What are the main symptoms of Cutis Laxa, Autosomal Recessive?
The main symptoms of the syndrome affect the connective tissue- this leads to loose and wrinkled skin, and may also affect the connective tissue in the heart, blood vessels, joints, intestines, and lungs. This may lead to serious symptoms that affect the critical arteries in the body. It can also cause diverticula (pouches) in the walls of the bladder, intestines, and other organs.
The syndrome may also cause emphysema, a lung disease, in children.
The autosomal recessive form of the syndrome also causes intellectual disability, seizures, and issues with movement.
How is it diagnosed?
To find out if someone has a diagnosis of Cutis Laxa, Autosomal Recessive, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
