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Baller-Gerold syndrome

The evidence that Baller-Gerold syndrome is due to mutations in the RECQL4 gene (603780) and is part of a clinical spectrum that encompasses Rothmund-Thomson syndrome (RTS; 268400) and RAPADILINO syndrome (266280).

Cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome (SCS; 101400). The cardinal features of the Baller-Gerold syndrome are craniosynostosis and radial aplasia (Galea and Tolmie, 1990).

OTHER NAME(S): CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME

ABREVIATION(S):
BGS

TYPE: premature aging, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability

DNAtraffic protein(s) related to disease: RECQL4 (RTS)

OMIM: 218600

Last modification date: July 2, 2011