Baller-Gerold, syndrome

[MIM 218 600]

(craniosynostosis - radial aplasia syndrome )

Very rare.  Due to homozygous or compound heterozygous mutations of the RECQL4 gene (8q24.3) in 65 % of cases. This gene codes for the RecQ-helicases, involved in replication, recombination, and DNA repair. 


Association of:

-         craniosynostosis that may involve one or more sutures,. 

-         limb anomalies: aplasia or hypoplasia of the radius of the thumb, carpal or metacarpal bone

-         craniofacial anomalies: micrognathia, ocular proptosis, epicanthus

-         growth retardation (-4 SD of the average of the population)

-         urogenital anomalies: imperforate anus or anal malposition, cloaca, urinary malformations.


More rarely: cleft palate (or bifid uvula), vertebral anomalies, cardiac malformation (tetralogy of Fallot, subaortic stenosis, VSD). Sometimes poikiloderma after a few months of life.

Evolution: risk of unexpected death during the first year of life. Frequent mental retardation.


Anesthetic implications: 

risk of difficult intubation; difficult venous access; short stature; echocardiography.


Updated: November 2019