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;
Origin ID : 216300;
UMLS CUI : C1859081;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
