Living with RIN2 syndrome
A very rare inherited connective tissue condition with a large head, thin hair, loose skin, loose joints, and scoliosis.
Understanding RIN2 syndrome
Features include a large head (macrocephaly), sparse scalp hair, soft, stretchy skin, very flexible joints, and scoliosis. Facial features slowly become coarser. Other features can include gum overgrowth and uneven teeth. It begins in the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large head and coarse facial features
- Loose, stretchy, saggy skin
- Very flexible joints
- Gum overgrowth and uneven teeth
- Easy bruising
- High-pitched voice
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, brain and nervous system specialists and digestive system specialists.
- 3Consider genetic testing
Changes in RIN2 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); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists)
- 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 RIN2 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: macrocephaly-alopecia-cutis laxa-scoliosis syndrome; macrocephaly, alopecia, cutis laxa, scoliosis syndrome; macs (macrocephaly, alopecia, cutis laxa, scoliosis) syndrome; macs syndrome; rin2 deficiency; tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
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 RIN2 syndrome.
Explore research for RIN2 syndrome
Explore actively recruiting RIN2 syndrome studies with HealthSpark.
Find actively recruiting studies for RIN2 syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting RIN2 syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for RIN2 syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your RIN2 syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.