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Living with Autosomal recessive cutis laxa type 1

An inherited connective tissue condition with loose, sagging skin and problems in the lungs, blood vessels, and gut.

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Understanding Autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type 1 is a connective tissue condition that causes loose, wrinkled, sagging skin along with problems in other body systems.

Connective tissue gives structure and strength to the body. In this condition the skin hangs loosely and does not spring back. It can also affect the lungs, blood vessels, and the gut and urinary tract. Signs begin in the newborn period or infancy.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Loose, sagging skin that is not elastic (cutis laxa)
  • Lung problems such as emphysema
  • Collapsed lung (pneumothorax)
  • Hernias, including inguinal hernia
  • Very flexible joints and joint slipping
  • Heart failure

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, digestive system specialists and genetic specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

Care & treatment

Care team
autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
Expert care
Ask about multidisciplinary care centers for rare conditions
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with Children's Skin Disease Foundation
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
Can genetic testing find which gene is involved?
How should my lungs and heart be monitored?
Which specialists should be part of my care team?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive

Changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of a gene from each parent.

GeneticGastrointestinalSkin

Also known as: arcl1; autosomal recessive cutis laxa with severe systemic involvement; autosomal recessive cutis laxa, pulmonary emphysema type; cutis laxa, recessive, type i

Patient organizations

Broader rare-disease groups

Source: NIH GARD · Autosomal recessive cutis laxa type 1GARD ID 8480 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Autosomal recessive cutis laxa type 1.

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Explore research for Autosomal recessive cutis laxa type 1

Explore actively recruiting Autosomal recessive cutis laxa type 1 studies with HealthSpark.

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