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
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Symptoms of Hartsfield syndrome
Clinical features: Imported from Human Phenotype Ontology (HPO)
- Abnormality of head or neck
- Abnormality of the sense of smell
- Absent nares
- Cleft palate
- Cleft upper lip
- Downslanted palpebral fissures
- Hypoplasia of the frontal bone
- Microcephaly ...
Genetics of Hartsfield syndrome
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
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Names and Terminology
Other Names for This Condition
- Hartsfield-Bixler-Demyer syndrome
- holoprosencephaly and split hand/foot syndrome
- holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
- holoprosencephaly, hypertelorism ...
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- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ hartsfield-syndrome
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