Living with Yunis-Varon syndrome
A rare genetic condition affecting many parts of the body, including the collarbones, face, fingers and toes, brain and development.
Understanding Yunis-Varon syndrome
Signs can include underdeveloped or missing collarbones, large soft spots (fontanelles) on the head, distinct facial features, low muscle tone, and differences in the fingers and toes. People may also have feeding and breathing difficulties, brain differences, heart defects, developmental delay and intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small or missing collarbones
- Missing or small thumbs, fingers and toe bones
- Small or missing nails
- Very small eyes (microphthalmia)
- Brain differences, such as a missing corpus callosum
- Differences in the pelvis and ears
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 and genetic specialists.
- 3Consider genetic testing
Changes in FIG4 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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 FIG4 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia; cleidocranial dysplasia-micrognathia-absent thumbs syndrome; cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia; yunis varon syndrome; yunis-varón syndrome; yvs
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 Yunis-Varon syndrome.
Explore research for Yunis-Varon syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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