SYNONYMS Hirschsprung disease Nail hypoplasia-dysmorphism syndrome Aganglionic megacolon Congenital intestinal aganglionosis Congenital megacolon INTRODUCTION Al-Gazali-Donnai-Mueller (AGDM) syndrome is a fatal autosomal recessive malformation disorder that is characterized by: Hydronephrosis Hypoplastic nails Distal limb hypoplasia Craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, and low set ears with abnormal helices). AGDM syndrome has a prevalence of <1/1,000,000. It affects the large intestine, causing abnormality in passing stool due to the missing enteric nerve cells in the intestine muscles.
Enteric nerves are responsible for triggering muscle contractions for passing stool, and hence its abnormality causes severe constipation or complete intestinal blockage. AGDM syndrome: There are two…
