/Hernández-Aguirre Negrete syndrome

Hernández-Aguirre Negrete syndrome

Rare Disease

MONDO:0016290

Also Known As

intellectual disability-epilepsy-bulbous nose syndromeEhlers-Danlos syndrome with progeroid facies and mild intellectual disabilityEhlers-Danlos syndrome with progeroid facies and mild mental retardation

Definition

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.