Living with Autosomal recessive cutis laxa type 2B
A rare inherited condition with loose, wrinkled skin, slowed growth, and developmental delay.
Understanding Autosomal recessive cutis laxa type 2B
It begins in the newborn period or infancy. Skin looseness varies, and skin on the backs of the hands and feet can look wrinkled. Babies may grow slowly before birth and may have hip dislocation at birth. Low muscle tone, developmental delay, and intellectual disability are common. Cataracts, cloudy corneas, and thin bones have been reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, wrinkled skin
- Very flexible joints
- Hip dislocation present from birth
- Small head size (microcephaly)
- Poor weight gain (failure to thrive)
- Easy bruising
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in PYCR1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
Quick facts
It is caused by changes in the PYCR1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: arcl2, progeroid type; arcl2b; arcl2b - autosomal recessive cutis laxa type 2b; autosomal recessive cutis laxa type 2 caused by mutation in pycr1; autosomal recessive cutis laxa type 2 progeroid type; autosomal recessive cutis laxa type 2, progeroid type
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive cutis laxa type 2B.
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