Living with Basan syndrome
A rare genetic skin condition with blisters at birth, small white bumps, and no fingerprints.
Understanding Basan syndrome
It has been reported in two families and one unrelated person. One family had 13 affected people across three generations. Some people also have bent fingers and toes that do not fully straighten, and webbed toes. Symptoms are noted from childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Blistering skin
- Missing or unusual fingerprints
- Less sweating than usual (hypohidrosis)
- Small white bumps (milia)
- Fingers that stay bent (camptodactyly)
- Thin or thickened skin
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SMARCAD1 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
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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
Changes in the SMARCAD1 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: absence of dermatoglyphics congenital milia; absence of dermatoglyphics-congenital milia syndrome; absence of fingerprints congenital milia; absence of fingerprints-congenital milia syndrome; baird syndrome; basan-baird 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 Basan syndrome.
Explore research for Basan syndrome
Explore actively recruiting Basan syndrome studies with HealthSpark.
Find actively recruiting studies for Basan 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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