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Hirschsprung disease-nail hypoplasia-dysmorphism syndrome

Disease definition

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.

ORPHA:2153

Classification level: Disorder
  • Synonym(s):
    • Al Gazali-Donnai-Muller syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q43.1
  • OMIM: 235760
  • UMLS: C1856110
  • MeSH: -
  • GARD: 2703  584
  • MedDRA: -

Additional information

Further information on this disease

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Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.