Living with Mullerian duct anomalies-limb anomalies syndrome
A rare condition that combines differences in the reproductive organs with differences in the hands and arms.
Understanding Mullerian duct anomalies-limb anomalies syndrome
Females have differences ranging from a wall in the vagina to a doubled uterus and vagina, and males have a small penis. Limb differences range from an extra little finger to severe underdevelopment of the upper limbs with a split hand. Signs are seen in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Uterus duplication (uterus didelphys)
- Underdeveloped penis
- Split hand
- Underdeveloped forearm bone (ulna)
- Short limbs and short stature
- Smaller-than-average head size (microcephaly)
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 genetic specialists, maternal-fetal medicine specialists, urinary and male reproductive system 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
- Genetic specialists (geneticists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists); 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 autosomal dominant, which means a changed copy of the gene from one parent can be enough to cause it.
Also known as: hypomelia with mullerian duct anomalies; limb uterus syndrome; müllerian duct anomalies-limb anomalies syndrome; severe upper limb hypoplasia and mullerian duct anomalies
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 Mullerian duct anomalies-limb anomalies syndrome.
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