An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.
A previously undescribed autosomal dominant syndrome has been observed in a large kindred with affected relatives spanning at least five generations. The phenotype is highly variable and appears to show complete penetrance. Affected persons have a progressively coarse, acromegaloid-like facial appearance and thickening of the lips and intraoral mucosa. The differences are discussed between this syndrome and three rather similar syndromes, pachydermoperiostosis, the Ascher syndrome, and multiple neuroma syndrome.
D000172:Acromegaly / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005149:Facial Expression; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008046:Lip / Q000033:anatomy & histology; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009061:Mouth Mucosa / Q000033:anatomy & histology*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome