Jacco-Negri Syndrome

Jaco-Negri syndrome

Jacquot-Narri syndrome is a rare hereditary disease associated with metabolic disorders and manifested by multiple developmental defects. In approximately 1–5% of cases, the syndrome is combined with Landberg-Kleffler syndrome. Inheritance is carried out according to the autosomal recessive type.

Jaco-Narri first described this severe hereditary defect in 1937 in an Italian boy from the Narri family, who had mental retardation, a complex gait disorder, maxillofacial anomaly, and skin hyperpigmentation. Ten years earlier, in 1832, the English pediatrician T. Bayard mentioned a family of Danes (17 people) who were similar in appearance. All family members had no teeth, deaf-muteness, chorea, dermatitis, multiple dolichostenomelia (narrowing of the spinal canals), and displacement of the spinal axis were noted.

The defect concerns polysomy of chromosome 7. All seven chromosomes have one complete set of well