Atrioventricular septal defect with blepharophimosis and anal and radial defects

Preferred Label : Atrioventricular septal defect with blepharophimosis and anal and radial defects;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Houlston et al. (1994) described male and female sibs born of healthy nonconsanguineous Caucasian parents, with a combination of malformations that included atrioventricular septal defect, blepharophimosis, and anal and radial defects. The boy was the second born of a 32-year-old mother and 36-year-old father. Atrioventricular septal defect and tetralogy of Fallot were detected immediately after birth and corrected surgically. Blepharophimosis, convergent squint, up-slanting palpebral fissures, small simple ears, and micrognathia were noted. Fifth finger clinodactyly was present and the anus was anteriorly placed. The second affected child was born 2 years later. She had a secundum type atrial septal defect and a tiny ventricular septal defect. Blepharophimosis was more pronounced than in case 1 and microphthalmia was present. The ears were simple and cup-shaped. In the right forearm the radius was aplastic, the ulna was shortened, and the first metacarpal and thumb were absent. On the left there was a vestigial thumb represented only by soft tissue. The anus was imperforate and there was a rectovaginal fistula. Houlston et al. (1994) listed various reasons for concluding that the disorder in these sibs is distinct from that in several other syndromes with overlapping manifestations. The inheritance is presumably autosomal recessive. *FIELD* RF 1. Houlston, R. S.; Ironton, R.; Temple, I. K.: Association of atrial-ventricular septal defect, blepharophimosis, anal and radial defects in sibs: a new syndrome? Genet. Counsel. 5: 93-96, 1994. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 600123;

Details

Origin ID

600123;

UMLS CUI

C1838606;

Automatic exact mappings (from CISMeF team)
- atrioventricular septal defect with blepharophimosis and anal and radial defects [MeSH concept]
Currated CISMeF NLP mapping
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome [ORDO Disease]
- Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome (disorder) [SNOMED CT concept]
- atrioventricular septal defect with blepharophimosis and anal and radial defects [MeSH Supplementary Concept]
HPO term(s)
- Absent radius [HPO term]
- Anal atresia [HPO term]
- Anteriorly placed anus [HPO term]
- Aplasia of the 1st metacarpal [HPO term]
- Atrial septal defect [HPO term]
- Atrioventricular canal defect [HPO term]
- Atrioventricular septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Cupped ear [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the ulna [HPO term]
- Intrauterine growth retardation [HPO term]
- Micrognathia [HPO term]
- Microphthalmia [HPO term]
- Microtia, first degree [HPO term]
- Small, simple ears [HPO term]
- Strabismus [HPO term]
- Tetralogy of Fallot [HPO term]
- Upslanted palpebral fissure [HPO term]
- Ventricular septal defect [HPO term]
- Vesicoureteral reflux [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome [ORDO Disease]
- atrioventricular septal defect with blepharophimosis and anal and radial defects [MeSH Supplementary Concept]
- atrioventricular septal defect with blepharophimosis and anal and radial defects [MeSH concept]

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