Hernández-Aguirre Negrete syndrome

A syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. This condition is likely to be transmitted as an autosomal recessive trait.

Also known as: intellectual disability-epilepsy-bulbous nose syndrome, Ehlers-Danlos syndrome with progeroid facies and mild intellectual disability, Ehlers-Danlos syndrome with progeroid facies and mild mental retardation

0 clinical trials for this condition and its sub-types, 0 tagged with Hernández-Aguirre Negrete syndrome itself.