Hypertelorism and tetralogy of fallot

Preferred Label : Hypertelorism and tetralogy of fallot;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Farag and Teebi (1990) described 3 brothers, the offspring of first cousins once removed, with this combination. The father had hypertelorism and a brother of his, who was married to a second cousin, had a daughter with hypertelorism and tetralogy of Fallot. All 4 affected relatives had mild or borderline mental retardation. *FIELD* RF 1. Farag, T. I.; Teebi, A. S.: Autosomal recessive inheritance of a syndrome of hypertelorism, hypospadias, and tetralogy of Fallot? Am. J. Med. Genet. 35: 516-518, 1990. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 239711;

Details

Origin ID

239711;

UMLS CUI

C1855903;

Currated CISMeF NLP mapping
- Hypertelorism and tetralogy of Fallot [MeSH concept]
- hypertelorism and tetralogy of fallot [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Flattened nasal bridge [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Intellectual disability, mild [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Narrow palpebral fissure [HPO term]
- Patent ductus arteriosus [HPO term]
- Patent foramen ovale [HPO term]
- Posteriorly rotated ears [HPO term]
- Spina bifida occulta [HPO term]
- Talipes equinovarus [HPO term]
- Tetralogy of Fallot [HPO term]
- Tetralogy of Fallot with absent pulmonary valve [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypertelorism and tetralogy of Fallot [MeSH concept]
- hypertelorism and tetralogy of fallot [MeSH Supplementary Concept]

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