Living with Mullerian derivatives-lymphangiectasia-polydactyly syndrome
A rare genetic condition with differences in the reproductive organs, widened lymph vessels in the gut and lungs, extra fingers, and short limbs.
Understanding Mullerian derivatives-lymphangiectasia-polydactyly syndrome
Male newborns have Mullerian duct tissue (a small uterus, fallopian tubes, and a closed vagina) along with other genital differences. The condition also causes widened lymph vessels in the intestine and lungs, protein loss through the gut, an enlarged liver, and kidney differences. Extra fingers, distinctive facial features, and short limbs have also been described. Signs are seen during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reproductive organ differences
- Extra little finger (postaxial polydactyly)
- Fluid build-up in the belly (ascites)
- Enlarged liver and spleen
- Kidney differences
- Low muscle tone (hypotonia)
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, skin, hair, and nail specialists and urinary and male reproductive system 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); Skin, hair, and nail specialists (dermatologists); Urinary and male reproductive system specialists (urologists)
- 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 Children's Skin Disease Foundation
- 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, and it is inherited in an autosomal recessive way. This means a child inherits a changed copy of the gene from each parent.
Also known as: müllerian derivatives-lymphangiectasia-polydactyly syndrome; urioste syndrome
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 derivatives-lymphangiectasia-polydactyly syndrome.
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