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Baller-Gerold syndrome

Reviewed August 2013

What is Baller-Gerold syndrome?

Baller-Gerold syndrome is a rare condition characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.

People with Baller-Gerold syndrome have prematurely fused skull bones, most often along the coronal suture, the growth line that goes over the head from ear to ear. Other sutures of the skull may be fused as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose.

Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.

People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of thinning skin (atrophy), and small clusters of blood vessels just under the skin (telangiectases). These chronic skin problems are collectively known as poikiloderma.

The varied signs and symptoms of Baller-Gerold syndrome overlap with features of other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth. All of these conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part of a single syndrome with overlapping signs and symptoms.

How common is Baller-Gerold syndrome?

The prevalence of Baller-Gerold syndrome is unknown, but this rare condition probably affects fewer than 1 per million people. Fewer than 40 cases have been reported in the medical literature.

What genes are related to Baller-Gerold syndrome?

Mutations in the RECQL4 gene cause some cases of Baller-Gerold syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA.

Mutations in the RECQL4 gene prevent cells from producing any RECQL4 protein or change the way the protein is pieced together, which disrupts its usual function. A shortage of this protein may prevent normal DNA replication and repair, causing widespread damage to a person's genetic information over time. It is unclear how a loss of this protein's activity leads to the signs and symptoms of Baller-Gerold syndrome.

This condition has been associated with prenatal (before birth) exposure to a drug called sodium valproate. This medication is used to treat epilepsy and certain psychiatric disorders. Some infants whose mothers took sodium valproate during pregnancy were born with the characteristic features of Baller-Gerold syndrome, such as an unusual skull shape, distinctive facial features, and abnormalities of the arms and hands. However, it is unclear if exposure to the medication caused the condition.

Related Gene(s)

Changes in this gene are associated with Baller-Gerold syndrome.

  • RECQL4

How do people inherit Baller-Gerold syndrome?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of Baller-Gerold syndrome?

These resources address the diagnosis or management of Baller-Gerold syndrome and may include treatment providers.

  • Gene Review: Baller-Gerold Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1204)
  • Genetic Testing Registry: Baller-Gerold syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0265308)
  • MedlinePlus Encyclopedia: Craniosynostosis (http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm)
  • MedlinePlus Encyclopedia: Skull of a Newborn (image) (http://www.nlm.nih.gov/medlineplus/ency/imagepages/1127.htm)

You might also find information on the diagnosis or management of Baller-Gerold syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/baller-gerold-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/baller-gerold-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about Baller-Gerold syndrome?

You may find the following resources about Baller-Gerold syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for Baller-Gerold syndrome?

  • BGS
  • craniosynostosis-radial aplasia syndrome
  • craniosynostosis with radial defects

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about Baller-Gerold syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding Baller-Gerold syndrome?

atrophy ; autosomal ; autosomal recessive ; brachycephaly ; bulging eyes ; cell ; cell division ; chronic ; coronal ; coronal suture ; craniosynostosis ; DNA ; DNA replication ; double helix ; epilepsy ; gene ; genome ; genome instability ; hypertelorism ; inherited ; molecule ; ocular proptosis ; oligodactyly ; poikiloderma ; prenatal ; prevalence ; proptosis ; protein ; recessive ; sodium ; stature ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Anyane-Yeboa K, Gunning L, Bloom AD. Baller-Gerold syndrome craniosynostosis-radial aplasia syndrome. Clin Genet. 1980 Feb;17(2):161-6. (http://www.ncbi.nlm.nih.gov/pubmed/7363501?dopt=Abstract)
  • Feingold M, Sklower SL, Willner JP, Desnick RH, Cohen MM. Craniosynostosis-radial aplasia: Baller-Gerold syndrome. Am J Dis Child. 1979 Dec;133(12):1279-80. (http://www.ncbi.nlm.nih.gov/pubmed/517480?dopt=Abstract)
  • Gene Review: Baller-Gerold Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1204)
  • Santos de Oliveira R, Lajeunie E, Arnaud E, Renier D. Fetal exposure to sodium valproate associated with Baller-Gerold syndrome: case report and review of the literature. Childs Nerv Syst. 2006 Jan;22(1):90-4. Epub 2005 Mar 23. (http://www.ncbi.nlm.nih.gov/pubmed/15789214?dopt=Abstract)
  • Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestilä M, Gillerot Y, Mégarbané A, Verloes A. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006 Feb;43(2):148-52. Epub 2005 Jun 17. (http://www.ncbi.nlm.nih.gov/pubmed/15964893?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2013
Published: October 20, 2014