Overview
Limb-mammary syndrome (LMS) is a very rare inherited condition that mainly affects the development of the hands, feet, and breasts. It belongs to a group of disorders called ectodermal dysplasias, which involve problems with tissues that form the outer layer of the body during early development — including skin, nails, hair, teeth, sweat glands, and limbs. The condition is also sometimes referred to as LMS or as part of the broader TP63-related disorder spectrum. People with limb-mammary syndrome are typically born with missing or underdeveloped fingers and toes, a condition called ectrodactyly (sometimes called 'split hand/split foot'). The breasts and nipples are often absent or very underdeveloped, and the mammary glands may not function. Some individuals also have cleft palate, sparse or absent eyelashes and eyebrows, dry eyes, and problems with sweat glands. In females, the uterus and other reproductive organs may also be affected. There is currently no cure for limb-mammary syndrome. Treatment focuses on managing individual symptoms. This may include surgery to improve hand and foot function, dental care, eye drops for dry eyes, and hormone therapy or fertility support for those with reproductive organ involvement. A team of specialists is usually needed to provide the best care. With the right support, many people with LMS can lead full and active lives.
Also known as:
Key symptoms:
Missing or fused fingers and/or toes (split hand or split foot appearance)Absent or very underdeveloped breasts and nipplesNon-functioning mammary glands (unable to breastfeed)Cleft palate (opening in the roof of the mouth)Sparse or absent eyelashes and eyebrowsDry eyes due to reduced tear productionAbsent or underdeveloped sweat glands, causing difficulty regulating body temperatureUnderdeveloped or absent uterus in femalesSparse scalp hairNail abnormalities such as thin or absent nailsDental problems including missing or abnormally shaped teeth
Clinical phenotype terms (32)— hover any for plain English
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 Limb-mammary syndrome.
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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 Limb-mammary syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.Which specific change in the TP63 gene does my child have, and what does that mean for their symptoms and outlook?,What surgeries might help improve hand and foot function, and when is the best time to consider them?,How do we protect my child from overheating, and what warning signs should I watch for?,Will my child's fertility be affected, and are there options to preserve it?,Are there other family members who should be tested for this condition?,What therapies — such as occupational or physical therapy — would help most right now?,Are there any clinical trials or research studies we should know about?
Common questions about Limb-mammary syndrome
What is Limb-mammary syndrome?
Limb-mammary syndrome (LMS) is a very rare inherited condition that mainly affects the development of the hands, feet, and breasts. It belongs to a group of disorders called ectodermal dysplasias, which involve problems with tissues that form the outer layer of the body during early development — including skin, nails, hair, teeth, sweat glands, and limbs. The condition is also sometimes referred to as LMS or as part of the broader TP63-related disorder spectrum. People with limb-mammary syndrome are typically born with missing or underdeveloped fingers and toes, a condition called ectrodacty
How is Limb-mammary syndrome inherited?
Limb-mammary syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Limb-mammary syndrome typically begin?
Typical onset of Limb-mammary syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Limb-mammary syndrome?
2 specialists and care centers treating Limb-mammary syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.