Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Gorlin et al. (1973) described a seemingly 'new' syndrome in a 9-year-old boy who
may have been the product of father-daughter incest. Unusual facies consisted of snub
nose, epicanthal folds, and cleft palate. These findings and large joints were evident
from birth. The prominence of almost all joints was progressive. Inferior subluxation
of both lenses was found at age 9 years and this could be accounted for by the finding
of homocystinuria. However, the authors concluded that the child had another recessive
disorder resulting from the parental consanguinity. *FIELD* RF 1. Gorlin, R. J.; Alper,
R.; Langer, L. O., Jr.: Megaepiphyseal dwarfism. J. Pediat. 83: 633-635, 1973. *FIELD*
CS;
Inheritance : Autosomal recessive; ? variant of Oto-spondylo-megaepiphyseal dysplasia (215150);
Currated CISMeF NLP mapping