Carpenter Syndrome (RAB23)

Carpenter syndrome is an autosomal recessive disorder caused by pathogenic variants in the gene RAB23. It has not been linked to any specific populations. The clinical presentation includes premature fusion of skull bones, developmental abnormalities of fingers and toes, intellectual disability, and genital abnormalities in almost all male patients. Patients may also have obesity beginning in childhood, hearing loss, heart defects, or abnormal organ development. With the exception of childhood-onset obesity and premature skull fusion (which occurs within the first year of life), all symptoms develop during fetal growth. The average life expectancy is typically reduced, but depends on the severity of the malformations. There have been no reported genotype-phenotype correlations.

For information about carrier frequency and residual risk, please see the residual risk table.