Living with Biemond syndrome type 2
An extremely rare genetic syndrome with eye, growth, and learning differences.
Understanding Biemond syndrome type 2
Reported features include a split in part of the eye (coloboma), short stature, obesity, low function of the sex glands (hypogonadism), extra fingers or toes, and intellectual disability. Some also had hydrocephalus (extra fluid in the brain) and facial bone differences. It shares features with Bardet-Biedl syndrome. No new reports have appeared since 1997.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Notched pupil (coloboma)
- Small eyeballs (microphthalmia)
- Short stature and obesity
- Delayed puberty (hypogonadism)
- Extra fingers or toes (polydactyly)
- Intellectual disability
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.
- 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); 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 genes cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: biemond syndrome ii; hypogonadism-short stature-coloboma-preaxial polydactyly 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 Biemond syndrome type 2.
Explore research for Biemond syndrome type 2
Explore actively recruiting Biemond syndrome type 2 studies with HealthSpark.
Find actively recruiting studies for Biemond syndrome type 2 with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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