Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and a malformation of the hands and feet called ectrodactyly.

Hartsfield syndrome is caused by mutations in the FGFR1 gene, which provides instructions for making a protein called fibroblast growth factor receptor 1 (FGFR1). This receptor interacts with proteins called fibroblast growth factors (FGFs) to trigger signaling within cells. Signaling via the FGFR1 protein is involved in many critical processes, such as cell division and the regulation of cell growth and maturation. This signaling is important for the normal development and growth of several parts of the body, including the brain, bones of the head and face (craniofacial bones), and bones in the hands and feet.

Hartsfield syndrome appears to be a rare disorder. Fewer than 20 cases have been reported in the medical literature. For unknown reasons, most of the people who have been diagnosed with this disorder are male.

Hartsfield syndrome can have either an autosomal dominant or autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In these cases, the condition usually results from a new (de novo) mutation in the FGFR1 gene that occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Most of these affected individuals have no history of the disorder in their family. However, in a small number of cases, people with Hartsfield syndrome have inherited the altered gene from an unaffected parent who has an FGFR1 gene mutation only in the sperm or egg cells. This phenomenon is called germline mosaicism.

Published Date: October 01, 2016
Published By: National Institutes of Health