Living with Taybi-linder syndrome
A rare genetic condition with very short stature, small head, and brain, eye, and hearing differences.
Understanding Taybi-linder syndrome
It involves changes in the RNU4ATAC gene, part of a cell system that helps process genetic messages. People have dwarfism, a small head (microcephaly), and brain differences. Intellectual disability and eye and hearing differences are also described.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very short stature
- Small head (microcephaly)
- Brain differences
- Slow growth before birth
- Intellectual disability
- Eye and hearing differences
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 RNU4ATAC gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: brachymelic primordial dwarfism; cephaloskeletal dysplasia; low-birth-weight dwarfism with skeletal dysplasia; microcephalic osteodysplastic primordial dwarfism type i; microcephalic osteodysplastic primordial dwarfism type i/iii; microcephalic osteodysplastic primordial dwarfism, caroline crachami type
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 Taybi-linder syndrome.
Explore research for Taybi-linder syndrome
Explore actively recruiting Taybi-linder syndrome studies with HealthSpark.
Find actively recruiting studies for Taybi-linder syndrome 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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