Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Mental retardation-epilepsy-bulbous nose
Introduction
Synonyms and keywords: Hernandez-Aguirre Negrete syndrome; Intellectual deficit – epilepsy – bulbous nose.
Overview
Overview
This syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity.
Historical Perspective
Historical Perspective
It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families.[1]
Pathophysiology
Pathophysiology
This condition is likely to be transmitted as an autosomal recessive trait.
References
References
- ↑ http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2038&Disease_Disease_Search_diseaseGroup=epilepsy&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hernandez-Aguirre-Negrete-syndrome–Mental-retardation—epilepsy—bulbous-nose-&title=Hernandez-Aguirre-Negrete-syndrome–Mental-retardation—epilepsy—bulbous-nose-&search=Disease_Search_Simple
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S