- Craniosynostosis with radial defects
- Craniosynostosis-radial aplasia syndrome
Your QuestionCan Baller-Gerold syndrome be detected prior to birth? How many cases of this condition have been identified throughout the world?
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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 skin tissue degeneration, and small clusters of enlarged blood vessels just under the skin. These chronic skin problems are collectively known as poikiloderma.
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.
- Baller-Gerold syndrome. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome. Accessed 5/26/2011.
- Faivre L. Baller-Gerold syndrome. Orphanet. 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1225. Accessed 5/26/2011.
- Van Maldergem L. Baller-Gerold Syndrome. GeneReviews. 2007; http://www.ncbi.nlm.nih.gov/books/NBK1204/. Accessed 5/26/2011.