Hartsfield syndrome

Preferred Label : Hartsfield syndrome;

Symbol : HRTFDS;

CISMeF acronym : HRTFDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate;

Description : Hartsfield syndrome classically refers to the triad of holoprosencephaly, ectrodactyly, and cleft/lip palate. Profound mental retardation is also present. Multiple other congenital anomalies usually occur (Vilain et al., 2009). The disorder involves midline and limb field defects (Zechi-Ceide et al., 2009). See also ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC; 129900), which shows phenotypic similarities.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor 1 gene (FGFR1, 136350.0030);

Laboratory abnormalities : Hypernatremia;

Prefixed ID : #615465;

Details

Origin ID

615465;

UMLS CUI

C1845146;

Automatic exact mappings (from CISMeF team)
- FGFR1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Hartsfield syndrome [ORDO Disease]
- Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate [MeSH Supplementary Concept]
- Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate [MeSH concept]
- Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder) [SNOMED CT concept]
Genes related to phenotype
- Fibroblast growth factor receptor 1 [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Diabetes insipidus [HPO term]
- Ectrodactyly [HPO term]
- Epicanthus [HPO term]
- Global developmental delay [HPO term]
- Gonadotropin deficiency [HPO term]
- Hypernatremia [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the frontal bone [HPO term]
- Hypospadias [HPO term]
- Hypotelorism [HPO term]
- Lobar holoprosencephaly [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Neonatal hypotonia [HPO term]
- Posteriorly rotated ears [HPO term]
- Psychomotor retardation [HPO term]
- Syndactyly [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Hartsfield syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Hartsfield syndrome [ORDO Disease]
- Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate [MeSH concept]
- Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate [MeSH Supplementary Concept]
- Holoprosencephaly, ectrodactyly, cleft lip, cleft palate syndrome (disorder) [SNOMED CT concept]

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