Cutis laxa corneal clouding mental retardation
Cutis Laxa Corneal Clouding Mental Retardation (CLCCMR) is a rare genetic disorder characterized by loose, sagging skin (cutis laxa), clouding of the cornea, and intellectual disability.
Symptoms[edit | edit source]
The primary symptoms of CLCCMR include cutis laxa, corneal clouding, and mental retardation. Cutis laxa is a condition where the skin lacks elasticity and hangs loosely, often resulting in a prematurely aged appearance. Corneal clouding refers to the loss of transparency in the cornea, the clear front surface of the eye, which can lead to vision problems. Mental retardation, now more commonly referred to as intellectual disability, is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living.
Causes[edit | edit source]
CLCCMR is a genetic disorder, caused by mutations in specific genes. These mutations affect the normal functioning of the skin, eyes, and brain, leading to the symptoms associated with the disorder. The exact genes involved in CLCCMR are currently unknown, and research is ongoing to identify them.
Diagnosis[edit | edit source]
Diagnosis of CLCCMR is based on the presence of the characteristic symptoms and can be confirmed through genetic testing. Genetic testing can identify the specific gene mutations associated with the disorder.
Treatment[edit | edit source]
There is currently no cure for CLCCMR. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of the disorder. This may include skin care for cutis laxa, eye care for corneal clouding, and educational support for mental retardation.
Prognosis[edit | edit source]
The prognosis for individuals with CLCCMR varies depending on the severity of the symptoms. With appropriate management and support, individuals with CLCCMR can lead fulfilling lives.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD
