Enamel hypoplasia, cataracts, and aqueductal stenosis

Preferred Label : Enamel hypoplasia, cataracts, and aqueductal stenosis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Seow et al. (1995) described a 12-year-old girl with generalized enamel hypoplasia of the hypomaturation-hypocalcification type, bilateral capsular cataracts, and enlarged cerebral ventricles secondary to aqueductal stenosis. They suggested that the combination may represent a 'new' syndrome. The parents were nonconsanguineous. The cataracts had been discovered approximately 18 months previously when she was investigated for headaches, easy fatigability, and deterioration in school performance. *FIELD* RF 1. Seow, W. K.; Needleman, H. L.; Smith, L. E. H.; Holtzman, D.; Najjar, S.: Enamel hypoplasia, bilateral cataracts, and aqueductal stenosis: a new syndrome? Am. J. Med. Genet. 58: 371-373, 1995. *FIELD* CS Isolated cases;

Inheritance : Isolated cases;

Prefixed ID : 600907;

Details

Origin ID

600907;

UMLS CUI

C1833163;

Currated CISMeF NLP mapping
- enamel hypoplasia, cataracts, and aqueductal stenosis [MeSH concept]
- enamel hypoplasia, cataracts, and aqueductal stenosis [MeSH Supplementary Concept]
HPO term(s)
- Aqueductal stenosis [HPO term]
- Dental crowding [HPO term]
- Enamel hypoplasia [HPO term]
- Headache [HPO term]
- Increased overbite [HPO term]
- Isolated cases [HPO term]
- Shovel-shaped maxillary central incisors [HPO term]
- Sporadic [HPO term]
- Subcapsular cataract [HPO term]
- Ventriculomegaly [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- enamel hypoplasia, cataracts, and aqueductal stenosis [MeSH Supplementary Concept]
- enamel hypoplasia, cataracts, and aqueductal stenosis [MeSH concept]

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