Overview
Mammary-digital-nail syndrome is an extremely rare genetic condition that affects the development of the breasts (mammary glands), fingers or toes (digits), and nails. This syndrome belongs to a group of disorders where multiple body systems develop abnormally before birth. People with this condition may have underdeveloped or absent breast tissue (mammary gland hypoplasia or aplasia), abnormalities of the fingers or toes such as shortened digits or missing bones, and nail abnormalities including small, thin, or absent nails. These features are typically present from birth or become apparent during childhood and puberty. Because this syndrome is so rare, the medical literature on it is very limited. The condition appears to follow a pattern of inherited developmental abnormalities affecting structures derived from the ectoderm, which is the outer layer of cells in the developing embryo responsible for forming skin, nails, and mammary tissue. The limb abnormalities suggest involvement of developmental pathways that guide the growth of hands and feet as well. There is currently no cure for mammary-digital-nail syndrome. Treatment is focused on managing individual symptoms and may include reconstructive surgery for breast development issues, orthopedic care for digit abnormalities, and cosmetic or functional interventions for nail problems. A team of specialists is usually needed to address the various aspects of this condition. Genetic counseling is recommended for affected families to understand the risk of passing the condition to future children.
Also known as:
Key symptoms:
Underdeveloped or absent breast tissueAbnormally small or missing nailsShortened fingers or toesMissing finger or toe bonesThin or brittle nailsAbnormal shape of fingers or toesAbsent or underdeveloped nipplesSkin abnormalities on hands or feet
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Mammary-digital-nail syndrome.
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Specialists
View all specialists →No specialists are currently listed for Mammary-digital-nail syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Mammary-digital-nail syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific features of this syndrome does my child have, and how severe are they?,Are there any surgical options that could improve hand or finger function?,When should we consider reconstructive surgery for breast development?,Is genetic testing available to confirm the diagnosis and identify the specific gene involved?,What is the chance of passing this condition to future children?,Are there any therapies to help with fine motor skills?,Should we see any additional specialists for ongoing care?
Common questions about Mammary-digital-nail syndrome
What is Mammary-digital-nail syndrome?
Mammary-digital-nail syndrome is an extremely rare genetic condition that affects the development of the breasts (mammary glands), fingers or toes (digits), and nails. This syndrome belongs to a group of disorders where multiple body systems develop abnormally before birth. People with this condition may have underdeveloped or absent breast tissue (mammary gland hypoplasia or aplasia), abnormalities of the fingers or toes such as shortened digits or missing bones, and nail abnormalities including small, thin, or absent nails. These features are typically present from birth or become apparent d
How is Mammary-digital-nail syndrome inherited?
Mammary-digital-nail syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mammary-digital-nail syndrome typically begin?
Typical onset of Mammary-digital-nail syndrome is neonatal. Age of onset can vary across affected individuals.