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craniosynostosis with radial defects (Baller-Gerold syndrome)
Genetics:
- autosomal recessive
- associated with defects in RECQL4
Clinical manifestations:
- short stature
- craniosynostosis
- absent or hypoplastic radii
- short & curved ulna
- fused carpal bones & absent carpals, metacarpals & phalanges
- some patients manifest poikiloderma
Differential diagnosis:
- cases reported as Baller-Gerold syndrome have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome
- Baller-Gerold syndrome is part of the clinical spectrum of Rothmund-Thomson syndrome & RAPADILINO syndrome
General
genetic syndrome (multisystem disorder)
craniosynostosis
Database Correlations
OMIM 218600
References
OMIM :accession 218600