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Hirschsprung disease-hearing loss-polydactyly syndrome

MedGen UID:
341066
Concept ID:
C1856112
Disease or Syndrome
Synonym: Hirschsprung disease with polydactyly, renal agenesis, and deafness
Modes of inheritance:
 
Monarch Initiative: MONDO:0009342
OMIM®: 235740
Orphanet: ORPHA2155

Definition

Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. [from ORDO]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHirschsprung disease-hearing loss-polydactyly syndrome

Supplemental Content

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