Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988.

Also known as: Al Gazali-Donnai-Muller syndrome, Al-Gazali-Donnai-Mueller syndrome, Hirschsprung disease with hypoplastic nails and dysmorphic facial features, Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features

3 clinical trials for this condition and its sub-types.