syndromic disease Hirschsprung disease-nail hypoplasia-dysmorphism syndrome https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/hirschsprung_disease_nail_hypoplasia_dysmorphism_syndrome https://www.malacards.org/card/hirschsprung_disease_with_hypoplastic_nails_and_dysmorphic_facial_features MEDGEN:344653 Orphanet:2153 SCTID:721223002 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. MESH:C535615 OMIM:235760 Al Gazali-Donnai-Muller syndrome Al-Gazali-Donnai-Mueller syndrome MONDO:0009344 UMLS:C1856110 Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features GARD:0000584 intestinal motility disease