Cutis laxa with joint laxity and retarded development

Cutis laxa with joint laxity and retarded development
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Loose skin, joint hypermobility, developmental delay
Complications	Cardiovascular issues, respiratory problems
Onset	Congenital or early childhood
Duration	Lifelong
Types	N/A
Causes	Genetic mutations
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management
Medication	N/A
Prognosis	Variable
Frequency	N/A
Deaths	N/A

Cutis laxa with joint laxity and retarded development is a rare genetic disorder characterized by loose, sagging skin (cutis laxa), hypermobile joints, and developmental delays. This condition is part of a group of connective tissue disorders that affect the skin, joints, and other systems of the body.

Presentation

Individuals with this condition typically present with:

• Cutis laxa: The skin appears loose and wrinkled, often giving an aged appearance. This is due to defects in the connective tissue that supports the skin.
• Joint laxity: Affected individuals often have hypermobile joints, which can lead to joint pain and an increased risk of dislocations.
• Developmental delay: There may be delays in reaching developmental milestones, such as walking and talking.

Additional features may include:

• Cardiovascular issues: Such as aortic aneurysms or heart valve abnormalities.
• Respiratory problems: Due to weakened connective tissue in the lungs.
• Gastrointestinal issues: Such as hernias or diverticula.

Genetics

Cutis laxa with joint laxity and retarded development is often inherited in an autosomal recessive manner, although other inheritance patterns have been reported. Mutations in several genes have been associated with this condition, including:

• ELN: The gene encoding elastin, a key protein in connective tissue.
• FBLN5: The gene encoding fibulin-5, which is involved in elastic fiber formation.

Diagnosis

Diagnosis is primarily clinical, based on the characteristic features of the disorder. Genetic testing can confirm the diagnosis by identifying mutations in the associated genes. A thorough family history and physical examination are essential components of the diagnostic process.

Management

There is no cure for cutis laxa with joint laxity and retarded development. Management focuses on symptomatic treatment and may include:

• Physical therapy: To improve joint stability and muscle strength.
• Surgical interventions: For severe joint dislocations or cardiovascular complications.
• Developmental support: Such as speech and occupational therapy.

Regular monitoring by a multidisciplinary team is recommended to address the various complications that may arise.

Prognosis

The prognosis for individuals with this condition varies widely depending on the severity of symptoms and the presence of complications. Early intervention and supportive care can improve quality of life.

Also see

• Cutis laxa
• Ehlers-Danlos syndrome
• Marfan syndrome
• Connective tissue disease