It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Congenital heart disease, umbilical hernia, prolonged retention of primary teeth and hypodontia may be present. In older patients obesity, mental retardation and hypogonadism have been noted. In all cases the parents have been normal. Marked intrafamilial variability is possible.
Carpenter syndrome-1 (CRPT1) is caused by homozygous mutation in the RAB23 gene (606144) on chromosome 6p11.
