Al-Gazali-Donnai-Mueller syndrome


Al-Gazali-Donnai-Mueller syndrome, also known as Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features syndrome is a rare and deadly genetic disorder which is characterized by Hirschsprung's disease, nail and distal limb hypoplasia, flat facies, upslanting palpebral fissures, narrow philtrum, high palate, micrognathia and low-set ears. No more new cases have been reported in medical literature since 1988. It is a type of Hirschsprung's syndrome.

Signs and symptoms

The signs and symptoms of Al-Gazali-Donnai-Mueller syndrome are the following
Abnormal facial shape; flat facies, upward slanting palpebral fissures, a narrow philtrum, a narrow high-arched palate, micrognathia and low-set ears with abnormal helices.
Aganglionic megacolon is also present with anal atresia, hydronephrosis, inguinal hernia, small/hypoplastic nails and distal limb hypoplasia.

Diagnosis

The diagnostic method for Al-Gazali-Donnai-Mueller Syndrome is from the basis of complete physical examination, thorough medical history evaluations, assessments of signs and symptoms, laboratory tests, imaging studies and MRIs and biopsy studies, if necessary. Many clinical conditions may have similar signs and symptoms, so your healthcare provider may carry out various tests in case they misdiagnose.