Living with Ulnar-mammary syndrome
A rare genetic condition with differences in the arms and hands, breast and sweat gland development, and genitals.
Understanding Ulnar-mammary syndrome
Main features are arm and hand differences, underdeveloped breast and sweat glands (which can mean no breast development or milk), and genital differences. Others may include hormone shortages, delayed puberty, dental problems, short stature, and obesity. Features vary from mild to severe, even in the same family. Not everyone who has the gene change will have features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or underdeveloped forearm bone and finger differences
- Small nipples and underdeveloped breast tissue
- Delayed puberty
- Short stature
- Obesity
- Undescended testes or small penis
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, brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in TBX3 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); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- 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
- 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
This condition is caused by changes in the TBX3 gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: pallister ulnar-mammary syndrome; schinzel syndrome; ulnar mammary syndrome; ulnar-mammary syndrome of pallister; ums
Patient organizations
- National Foundation for Ectodermal DysplasiasUlnar-mammary syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Ulnar-mammary syndrome.
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