Fg Syndrome 5

For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (305450).

Clinical Features

Jehee et al. (2005) reported a Brazilian boy with FG syndrome born to a young and nonconsanguineous couple. The boy was severely hypotonic and mentally retarded. He had trigonocephaly due to premature metopic closure, bilateral epicanthic folds, upslanted palpebral fissures, short nose with depressed bridge and upturned nares, long philtrum, diastema of upper central incisors, strabismus, and hypospadias. He had severe constipation, requiring enemas on 5 different occasions. He died at age 4 years, apparently due to generalized infection and multiple organ failure; autopsy was not performed. The proband had 3 healthy younger sibs.

Mapping

In a Brazilian boy with FG syndrome, Jehee et al. (2005) detected an inherited duplication at Xq22.3 by comparative genomic hybridization microarray; the patient's mother was found to be heterozygous for the duplication. Jehee et al. (2005) stated that the duplication maps outside the 4 known loci for FG syndrome, and designated this locus FGS5.