Living with Mammary-digital-nail syndrome
A rare inherited syndrome affecting nails, fingers, and toes, with breast overgrowth around puberty in females.
Understanding Mammary-digital-nail syndrome
People are born with nail changes or missing nails, short fifth fingers, thumbs that look like fingers, and short or missing end bones of the fingers and toes. Females may have very large breasts starting around puberty. Signs start in newborns and infants.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes these:
- Nail changes or missing nails
- Short fifth fingers
- Thumbs that look like fingers
- Short or missing end bones of fingers and toes
- Breast overgrowth in girls around puberty
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 bone and joint specialists, genetic specialists, maternal-fetal medicine specialists and women’s reproductive health specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Maternal-fetal medicine specialists (pregnancy-related); Women’s reproductive health specialists (obstetricians / gynecologists)
- 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 rare disease patient organizations for support
- 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 genes (also called variants) cause this condition. It is inherited in an autosomal dominant way, so a change in one copy of the gene can be enough.
Also known as: mammary digital nail syndrome; mdn (mammary digital nail) syndrome; mdn syndrome; mdns; onycho-digito-mammary syndrome
Patient organizations
Rare-disease groups that can help
- 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 Mammary-digital-nail syndrome.
Explore research for Mammary-digital-nail syndrome
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Find actively recruiting studies for Mammary-digital-nail syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- 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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