Hartsfield syndrome

Description: 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. During early development before birth, the brain normally divides into two halves, the ...1

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Symptoms of Hartsfield syndrome

Clinical features: Imported from Human Phenotype Ontology (HPO)

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Genetics of Hartsfield syndrome

Genetic Changes: 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 ...2

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Names and Terminology

Other Names for This Condition

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ hartsfield-syndrome
  2. ibid.

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