Baller Gerold Syndrome
What is Baller Gerold Syndrome?
Baller-Gerold syndrome (BGS) is a rare genetic disorder that affects growth and development of the bones of the skull and limbs of newborn babies. A newborn baby’s head is composed of several skull bones that fit together using sutures between them. After birth, these sutures expand and contract to allow proper growth of the baby’s brain before fusing together to form the skull. During normal development, these sutures fuse together at around age 2, but individuals with Baller-Gerold syndrome experience premature closing of these sutures before the brain has finished growing to its proper size. Specifically, the suture that runs between each ear and over the crown of the head is prematurely fused in in Baller-Gerold syndrome. This causes the brain to expand inside of an already fused skull and push on other regions of the head that have not been fused yet, which leads to a misshapen appearance called craniosynostosis. Babies with BGS can also exhibit abnormal bone growth in the arms and hands known as radial ray anomalies, and rashes and patches of skin discoloration and breakdown known as poikiloderma.
There are several genetic disorders that share similar features with Baller-Gerold Syndrome, specifically skull and arm bone abnormalities. Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders that share a common genetic cause and many features. They have been grouped into different disorders based on the different combination of symptoms that are often observed together in each of these rare diseases. However, there are so few cases of each and it is difficult to observe all the symptoms during early development, leading some to continue researching whether these three syndromes are the same disease.
Synonyms
- Craniosynostosis-radial aplasia syndrome
- Craniosynostosis with radial defects
Baller-Gerold syndrome (BGS) is a rare genetic disorder that affects growth and development of the bones of the skull and limbs of newborn babies. A newborn baby’s head is composed of several skull bones that fit together using sutures between them. After birth, these sutures expand and contract to allow proper growth of the baby’s brain before fusing together to form the skull. During normal development, these sutures fuse together at around age 2, but individuals with Baller-Gerold syndrome experience premature closing of these sutures before the brain has finished growing to its proper size. Specifically, the suture that runs between each ear and over the crown of the head is prematurely fused in in Baller-Gerold syndrome. This causes the brain to expand inside of an already fused skull and push on other regions of the head that have not been fused yet, which leads to a misshapen appearance called craniosynostosis. Babies with BGS can also exhibit abnormal bone growth in the arms and hands known as radial ray anomalies, and rashes and patches of skin discoloration and breakdown known as poikiloderma.
There are several genetic disorders that share similar features with Baller-Gerold Syndrome, specifically skull and arm bone abnormalities. Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders that share a common genetic cause and many features. They have been grouped into different disorders based on the different combination of symptoms that are often observed together in each of these rare diseases. However, there are so few cases of each and it is difficult to observe all the symptoms during early development, leading some to continue researching whether these three syndromes are the same disease.
This is a very rare disease that likely only occurs in 1 in every 1 million people. There have only been about 40 cases of Baller-Gerold syndrome observed and cited in the medical literature.
| Name | Abbreviation |
|---|---|
| BGS | |
| Craniosynostosis-radial aplasia syndrome | |
| Craniosynostosis with radial defects |
Baller-Gerold syndrome is a rare genetic disease caused by mutations in the RECQL4 gene. RECQL4 is one of the genes responsible for encoding a protein called RecQ helicases, which are proteins that bind to DNA in the cell nucleus and unwind it to allow for the cell to replicate the DNA properly and repair it before dividing into new cells. Mutations in this gene can lead to incorrect or lack of RecQ proteins, which can prevent the cells from copying and repairing DNA. Over time, this can lead to a loss of genetic information available to the cells and dysfunctions such as mistimed growth can occur. Other genes encoding for helicase proteins that cause BGS when mutated are TWIST and FGRF2.
The genetic mutations causing BGS are passed from parents to offspring through an autosomal recessive inheritance pattern. This means that both inherited chromosomes from each parent must have the mutated form of the gene for this to be expressed in the offspring. For more information about genetic inheritance patterns, visit the Rareshare article Guide on Genetic Inheritance.
Certain environmental exposures can cause genetic mutations and downstream effects. While mutations to the RECQL4 gene can be inherited in an autosomal recessive manner, some infants exposed to the drug sodium valproate during fetal growth can exhibit symptoms of BGS. A pregnant person might be prescribed sodium valproate as an anti-epilepsy drug or for other psychiatric disorders, and some babies born following this treatment have developed the characteristic head and facial features of BGS.
The main symptoms of Baller-Gerold syndrome are the following characteristic physical abnormalities: abnormally shaped head, short or bent arms, and malformed or missing fingers. An infant’s skull fuses together before the brain has fully developed during BGS, causing the skull to expand outward under the fused portion and forcing the fused sutures upward into a cone-like shape. Other cranial and facial characteristics of babies with BGS include prominent forehead, bulging eyes with shallow eye sockets (ocular proptosis), widely spaced eyes (hypertelorism), small mouth, and saddle-shaped nose.
Babies with BGS may also have differences in the shape of their arms. The bone on the outside of the arm by the pinky finger, or ulna, can be shortened or bent, while the bone on the inside or thumb side of the arm can be underdeveloped or missing. The bones in the hand can also become misshapen or missing on both or just one side of the body. Other features of the hands can include missing fingers (oligodactyly), malformed or absent thumbs.
An infant may be suspected to have BGS if they have a shortened stature, malformed or missing kneecaps, and develop a skin rash appearing on the arms and legs just after birth and continuing to spread known as poikiloderma. This rash is a unique characteristic of BGS as opposed to other genetic disorders that affect the shape of the head. It indicates that the skin is breaking down and should be treated to avoid risk of skin cancer.
Another risk posed to individuals with BGS is due to their lack of growth and development of the body and muscles. This can lead to heart defects involving the musculature, including Ventricular septal defects, tetralogy of Fallot, and congenital portal venous malformations.
A diagnosis of Baller-Gerold syndrome involves both a clinical and a genetic diagnosis to conclude that growth abnormalities are the result of RECQL4 or related genetic mutations.
Clinical diagnostic tests to confirm BGS often include a CT scan or X-ray to study the alignment of bones in the body. Dermatologists can study the skin rash poikiloderma which can occur in individuals with BGS.
The current treatment for Baller-Gerold syndrome is surgery to correct the abnormalities introduced by premature growth and development. Surgery in infants before the age of 6 months can be performed to repair the misshapen head (craniosynostosis). Additionally, surgery in the fingers can be performed if needed to allow the individual to better grasp objects. Dermatologists can treat the skin rash poikiloderma, and it is recommended to wear sunscreen over the affected areas to prevent development of skin cancer.
The symptoms of Baller-Gerold syndrome appear and develop in early infancy, allowing for early treatment to reconstruct the affected parts of the body. Intellectual disability has been reported in some individuals with BGS, but most individuals have normal intelligence. Individuals diagnosed with BGS have an increased risk for developing different types of cancer due to abnormal development and growth speeds. It is therefore recommended for affected individuals to be informed of symptoms that are suggestive of cancer and seek prompt evaluation should any concerns arise.
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https://rarediseases.org/gard-rare-disease/baller-gerold-syndrome/
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https://medlineplus.gov/genetics/condition/baller-gerold-syndrome/
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https://www.news-medical.net/health/What-is-Baller-Gerold-Syndrome.aspx
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(2021). BALLER-GEROLD SYNDROME; BGS (#218600). [Online] OMIM. Available at: https://www.omim.org/entry/218600#creationDate
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(2020). Baller-Gerold syndrome. [Online] NIH-National Center for Advancing Translational Sciences. Available at: https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome
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(2019). Baller-Gerold Syndrome. [Online]National Organization for Rare Disorders. Available at: https://rarediseases.org/
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Kim, S, J. (2019). Baller-Gerold Syndrome in a Premature Infant with a Mutation in the RECQL4 Gene. Neonatal Med, 26(4):240-245. https://doi.org/10.5385/nm.2019.26.4.240
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Van Maldergem L, Piard J, Larizza L, et al. Baller-Gerold Syndrome. 2007 Aug 13 [Updated 2018 Apr 19]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1204/
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https://my.clevelandclinic.org/health/diseases/6000-craniosynostosis
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https://rarediseases.info.nih.gov/diseases/1602/baller-gerold-syndrome
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https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1225
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