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Genetic and Rare Diseases Information Center (GARD)

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Baller-Gerold syndrome

Other Names for this Disease
  • BGS
  • Craniosynostosis with radial defects
  • Craniosynostosis-radial aplasia syndrome
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Your Question

Can Baller-Gerold syndrome be detected prior to birth? How many cases of this condition have been identified throughout the world?

Our Answer

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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, sometimes referred to as radial ray anomalies. Many cases of Baller-Gerold syndrome are caused by mutations in the RECQL4 gene. These cases are inherited in an autosomal recessive manner. In a few reported cases, the characteristic features of Baller-Gerold syndrome have been associated with prenatal exposure to a drug called sodium valproate which is used to treat epilepsy and certain psychiatric disorders. [1] Treatment may include surgery for treatment of craniosynostosis or reconstruction of the index finger to functional thumb.[2] The symptoms of Baller-Gerold syndrome overlap with features of Rothmund-Thomson syndrome and RAPADILINO syndrome which are also caused by the RECQL4 gene. Researchers are trying to determine if these conditions are separate disorders or part of a single syndrome with overlapping signs and symptoms.[1]
Last updated: 5/25/2011

What are the signs and symptoms of Baller-Gerold syndrome?

Many people with Baller-Gerold syndrome 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 be malformed 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.[1]

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.[1]

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 skin tissue degeneration, and small clusters of enlarged blood vessels just under the skin. These chronic skin problems are collectively known as poikiloderma.[1]

Last updated: 5/25/2011

How many cases of Baller-Gerold syndrome have been reported?

Around 30 cases of Baller-Gerold syndrome have been reported in the medical literature.[2] While the prevalence of this condition is unknown, it probably affects fewer than 1 per million people.[1][3]
Last updated: 5/25/2011

Can Baller-Gerold syndrome be detected before birth?

Serial ultrasound examination may identify limb shortening, radial hypo/aplasia and abnormal head shape (brachycephaly). Ultrasound examination may reveal these findings as early as 14 weeks' gestation in fetuses at-risk for this condition.[3513[3] 

Prenatal diagnosis for pregnancies at increased risk for Baller-Gerold syndrome is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis usually performed at approximately 15 to 18 weeks' gestation or chorionic villus sampling (CVS) at approximately ten to 12 weeks' gestation. Both disease-causing alleles must be identified before prenatal testing can be performed.[2][3]

Last updated: 5/25/2011