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

More general terms

• genetic syndrome (multisystem disorder)
• craniosynostosis

Database

• OMIM: https://mirror.omim.org/entry/218600