Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Preferred Label : Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate;

Obsolete resource : true;

Moved to : 615465;

Alternative titles and symbols : Hartsfield syndrome;

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 : X-linked; Isolated cases;

Laboratory abnormalities : Hypernatremia;

Prefixed ID : 300571;

Details

Origin ID

300571;

UMLS CUI

C1845146;

Currated CISMeF NLP mapping
- 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]
HPO term(s)
- Gonadotropin deficiency [HPO term]
- Isolated cases [HPO term]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 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]

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