Hernández-Aguirre Negrete syndrome

Alternate names

Intellectual disability-epilepsy-bulbous nose syndrome

Definition

Hernández-Aguirre Negrete 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.

NIH genetic and rare disease info

NIH info on Hernández-Aguirre Negrete syndrome

Hernández-Aguirre Negrete syndrome is a rare disease.

Resources

Frequently asked questions

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