Type of disease: Rare conditions
Fine-Lubinsky syndrome is a very rare syndrome which has only been reported in a few individuals. Signs and symptoms may include brachycephaly (short or broad head), hearing loss, cataracts, intellectual disability, and several other features affecting various parts of the body. Although the majority of reported cases have been sporadic (occurring in individuals with no history of the disorder in the family), the syndrome has been reported in one pair of siblings with an apparently autosomal recessive inheritance pattern. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.