Living with Mononen-Karnes-Senac syndrome
A rare bone condition with short thumbs and big toes, mild short stature, and mild bowing of the legs.
Understanding Mononen-Karnes-Senac syndrome
Features include short fingers (brachydactyly) with short thumbs that angle away from the hand, short index fingers, and very short big toes. Some people also have mild short stature and mild bowlegs. GARD says it was described in two males, their mothers, and a maternal aunt, and that females are less severely affected than males. Signs are seen in the newborn period or infancy.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Short fingers (brachydactyly)
- Short, angled thumbs
- Short big toes
- Mild short stature
- Mild bowlegs
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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 genes (also called variants) cause this condition. X-linked dominant inheritance is suggested, which means the gene is on the X chromosome.
Also known as: brachydactyly, mononen type; mononen type brachydactyly; short and abducted thumbs and great toes; skeletal dysplasia-brachydactyly syndrome
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 Mononen-Karnes-Senac syndrome.
Explore research for Mononen-Karnes-Senac syndrome
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- Recruiting studies from ClinicalTrials.gov
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