Alternative Names
Baller-Gerold syndrome; BGS; Craniosynostosis-radial aplasia syndrome; Craniosynostosis with radial defects
Symptoms & Characteristics
Baller-Gerold syndrome is a disorder characterized by the premature closure of certain skull bones (craniosynostosis) and abnormalities of bones in the arms and hands.
Many affected people have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may also be malformed. This premature closure results in an abnormally shaped head, a prominent forehead and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features may include widely spaced eyes (hypertelorism), a small mouth as well as a saddle-shaped or underdeveloped nose.
Bone abnormalities in the hands can include missing fingers (oligodactyly) as well as 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.
Additional signs and symptoms of Baller-Gerold syndrome may include slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs soon after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of skin tissue degeneration (atrophy) and small clusters of enlarged blood vessels just under the skin called telangiectases. Collectively, these skin problems are known as poikiloderma.
The varied signs and symptoms of Baller-Gerold syndrome overlap with features of other conditions, such as Rothmund-Thomson syndrome and RAPADILINO syndrome. These syndromes are also characterized by radial ray defects, skeletal abnormalities, and slow growth; and can all be caused by mutations in the same gene. As such, researchers are investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or represent a spectrum of a single syndrome.
Treatment
Early diagnosis, routine surveillance and treatment of Baller-Gerold syndrome may help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
Baller-Gerold syndrome is a rare condition, as it probably affects less than one in a million people. Its prevalence is unknown.
Genetics & Inheritance
Some cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene.
Baller-Gerold syndrome 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.
In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate. This medication is used to treat epilepsy and certain psychiatric disorders. Several affected individuals whose mothers took sodium valproate during pregnancy have been born with an unusual skull shape, distinctive facial features as well as abnormalities of the arms and hands.
Genetic Testing
Clinical genetic testing for Baller-Gerold syndrome may be available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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