Other Names for this Disease
- Craniosynostosis with radial defects
- Craniosynostosis-radial aplasia syndrome
What are the signs and symptoms of Baller-Gerold syndrome?
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.
- 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.