Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

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Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Synonyms: Al Gazali-Donnai-Muller syndrome

Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 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 in the literature since 1988.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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