FaCD Online Syndrome Fact Sheet

Last updated: 05 Jun 2009

Name: Baller-Gerold syndrome

Synonym: Craniosynostosis with Radial Defects

Mode of Inheritance: AR

Genes

RECQL4, mapped to 8q24.3

Tumor features (possible)

non-Hodgkin lymphoma

Non-tumor features

craniosynostosis
poikilodermatosis
radial aplasia
radial hypoplasia
short stature
thumbs, hypoplastic or absent

Comment

Germline mutations in the DNA helicase gene RECQL4 are associated with three clinically overlapping syndromes: Baller-Gerold syndrome, Rothmund-Thomson syndrome and RAPADILINO syndrome. Craniosynostosis with radial defects are the hallmarks of Baller-Gerold syndrome.[1].
In contrast to the other two RECQL4-associated disorders, Baller-Gerold syndrome is not typically associated with increased tumor incidence, however, Debeljak et al[2] reported a two-and-a-half year-old girl with Baller-Gerold syndrome and a NK/T lymphoma in the nasal region.

References

[1] Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. The mutation spectrum in RECQL4 diseases.Eur J Hum Genet. 2009 Feb;17(2):151-8.
[2] Debeljak M, Zver A, Jazbec J. A patient with Baller-Gerold syndrome and midline NK/T lymphoma.Am J Med Genet A. 2009 Feb 15;149A(4):755-9.