Orphanet: Hirschsprung disease deafness polydactyly syndrome

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Hirschsprung disease-deafness-polydactyly syndrome

Disease 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.

ORPHA:2155

Classification level: Disorder

Synonym(s):
- Hirschsprung disease-hearing loss-polydactyly syndrome
- Santos-Mateus-Leal syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Neonatal
ICD-10: Q43.1
OMIM: 235740
UMLS: C2931452
MeSH: -
GARD: 157
MedDRA: -

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Hirschsprung disease-deafness-polydactyly syndrome

ORPHA:2155

A summary on this disease is available in Deutsch (2004) Español (2015) Italiano (2015) Nederlands (2015) Français (2005)

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