Hernández-Aguirre Negrete syndrome

Hernández-Aguirre Negrete syndrome is a very rare condition that has been described in a small number of children from two unrelated Mexican families. This syndrome is noted for its major seizures, unusual physical features such as a round face, a bulbous nose, a wide mouth, and a prominent philtrum, along with flat feet. In addition to these physical characteristics, children with this condition may also experience delays in growth and development and gain weight more easily. The condition appears to be inherited in an autosomal recessive pattern, meaning that a child would need to receive a copy of the gene mutation from each parent. At this time, only five cases have been described in medical reports, and one of those affected did not survive infancy. Information on this syndrome remains limited due to its rarity.

People with Hernández-Aguirre Negrete syndrome may experience major seizures and have distinctive facial features including a round face, bulbous nose, wide mouth, and a prominent philtrum. Additional symptoms include flat feet, delays in motor and mental development (psychomotor retardation), and obesity. These symptoms form the key features observed in the few cases reported.

The syndrome is thought to be caused by a genetic mutation that is inherited in an autosomal recessive manner. In an autosomal recessive inheritance pattern, both parents carry one copy of the mutation. Although the specific gene involved is not yet known, this pattern of inheritance explains why the condition has been observed in children from the affected families.

Information about treatment is currently limited for this condition.

Detailed information about the long-term outlook for Hernández-Aguirre Negrete syndrome is not well established due to the very few cases that have been reported. The severity of symptoms, such as major seizures and developmental delays, indicates that the condition may cause significant challenges, but more information is needed to fully understand the progression and quality of life in affected individuals.

Information about current research and future directions for Hernández-Aguirre Negrete syndrome is currently limited. As with many rare diseases, further studies are needed to understand the syndrome further and to explore potential management strategies.