Living with Limb-mammary syndrome
A rare inherited condition affecting the hands and feet, breasts and nipples, teeth, and nails.
Understanding Limb-mammary syndrome
Ectodermal dysplasia mainly affects the teeth and nails. A cleft lip or palate may also be present. It may be noticed during pregnancy or in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hand and foot differences
- Underdeveloped or missing breasts
- Small or absent nipples
- Blocked tear ducts
- Teeth and nail differences
- Cleft lip or palate
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, eye disease specialists, genetic specialists and maternal-fetal medicine specialists.
- 3Consider genetic testing
Changes in TP63 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias and other patient organizations
- 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 TP63 gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: limb mammary syndrome; lms; mammary hypoplasia, ectrodactyly, and other hand/foot anomalies
Patient organizations
- National Foundation for Ectodermal DysplasiasLimb-mammary syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Limb-mammary syndrome.
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