Living with McKusick-Kaufman syndrome
A condition affecting the hands, feet, heart, and reproductive system, with extra fingers or toes.
Understanding McKusick-Kaufman syndrome
It combines three features: extra fingers or toes (polydactyly), heart defects, and genital differences. The most common genital difference is hydrometrocolpos, a fluid buildup in the vagina and uterus. Its signs overlap with Bardet-Biedl syndrome, which has other features, such as gradual vision loss, developmental disabilities, kidney differences, and obesity.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra finger on the pinky side (postaxial polydactyly)
- Fluid buildup in the vagina and uterus (hydrometrocolpos)
- Hypospadias
- Undescended testes
- Swelling of the kidney from fluid (hydronephrosis)
- Heart wall openings (septal defects)
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.
- 3Consider genetic testing
Changes in MKKS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- 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 the MKKS gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: hydrometrocolpos syndrome; hydrometrocolpos-postaxial polydactyly syndrome; hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; kaufman-mckusick syndrome; mckusick kaufman syndrome; mkks
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 McKusick-Kaufman syndrome.
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