Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Findings
No curated finding names Hirschsprung disease-nail hypoplasia-dysmorphism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009344), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
- Also called
- Al Gazali-Donnai-Muller syndrome