Cleft palate, deafness, and oligodontia

Preferred Label : Cleft palate, deafness, and oligodontia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : In a sibship of Swedish extraction, Gorlin et al. (1971) observed 2 sisters with cleft soft palate, severe oligodontia of the deciduous teeth, no permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with wide space between the first and second toes, and coalition of bones in the foot. Gorlin (1989) knew of no further cases. *FIELD* RF 1. Gorlin, R. J.: Personal Communication. Minneapolis, Minn. 1989. 2. Gorlin, R. J.; Schlorf, R. A.; Paparella, M. M.: Cleft palate, stapes fixation and oligodontia. Birth Defects Orig. Art. Ser. VII(7): 87 only, 1971. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 216300;

Details

Origin ID

216300;

UMLS CUI

C1859081;

Currated CISMeF NLP mapping
- cleft palate, deafness, and oligodontia [MeSH concept]
- cleft palate, deafness, and oligodontia [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral conductive hearing impairment [HPO term]
- Cleft soft palate [HPO term]
- No permanent dentition [HPO term]
- Oligodontia of primary teeth [HPO term]
- Sandal gap [HPO term]
- Short hallux [HPO term]
ORDO concept(s)
- Cleft palate-stapes fixation-oligodontia syndrome [ORDO Disease]
See also inter- (CISMeF)
- Cleft palate with stapes fixation and oligodontia syndrome (disorder) [SNOMED CT concept]
- Cleft palate-stapes fixation-oligodontia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleft palate-stapes fixation-oligodontia syndrome [ORDO Disease]
- cleft palate, deafness, and oligodontia [MeSH Supplementary Concept]
- cleft palate, deafness, and oligodontia [MeSH concept]

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