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Living with Baller-Gerold syndrome

A rare genetic condition with early-fused skull bones and differences in the arms and hands.

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Understanding Baller-Gerold syndrome

Baller-Gerold syndrome is a rare genetic condition with early fusing of skull bones (craniosynostosis) and differences in the bones of the arms and hands.

The skull bones fuse too early, which changes head shape and can give a prominent forehead and bulging eyes. Hand and arm differences can include missing fingers, missing or malformed thumbs, and missing forearm bones. Some people grow slowly or have missing kneecaps. A rash often appears a few months after birth and can lead to skin color changes and thinning skin (poikiloderma).

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Skull bones that fuse early
  • Small or missing thumbs
  • Missing fingers
  • Small or missing forearm bone (radius)
  • Bulging eyes (proptosis)
  • Slow growth and poor weight gain in infancy

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include bone and joint specialists, digestive system specialists and genetic specialists.

  3. Consider genetic testing

    Changes in RECQL4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    World Craniofacial Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
Expert care
Expert lists: World Craniofacial Foundation
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 FACES: The National Craniofacial Association and other patient organizations
  • 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
Bring these questions to your next doctor visit
Can genetic testing for the RECQL4 gene confirm the diagnosis?
Which specialists should care for skull and hand differences?
How should skin changes and growth be followed?

Quick facts

Symptoms usually startduring Pregnancy and as a Newborn
InheritanceAutosomal Recessive
GenesRECQL4

It is caused by changes in the RECQL4 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.

GeneticGastrointestinal

Also known as: bgs; craniosynostosis with radial defects; craniosynostosis-radial aplasia syndrome

Patient organizations

Source: NIH GARD · Baller-Gerold syndromeGARD ID 1602 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Baller-Gerold syndrome.

Explore the Baller-Gerold syndrome blog
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Embrace the Ask: How to Seek The Support You Need

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Explore research for Baller-Gerold syndrome

Explore actively recruiting Baller-Gerold syndrome studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Baller-Gerold syndrome with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
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  • 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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