Hirschsprung disease with polydactyly, renal agenesis, and deafness

Preferred Label : Hirschsprung disease with polydactyly, renal agenesis, and deafness;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Santos et al. (1988) described a brother and sister, offspring of first-cousin parents, with a syndrome of Hirschsprung disease, polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness. Santos et al. (1988) thought this was different from the disorder in 2 male infants with Hirschsprung disease, polydactyly, and ventricular septal defect (235750). *FIELD* RF 1. Santos, H.; Mateus, J.; Leal, M. J.: Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome. J. Med. Genet. 25: 204-208, 1988. *FIELD* CS GI: Hirschsprung megacolon Limbs: Polydactyly GU: Unilateral renal agenesis;

Inheritance : Autosomal recessive;

Prefixed ID : 235740;

Details

Origin ID

235740;

UMLS CUI

C1856112;

Currated CISMeF NLP mapping
- Hirschsprung disease-deafness-polydactyly syndrome [ORDO Disease]
- Santos Mateus Leal syndrome [MeSH concept]
- hirschsprung disease with polydactyly, renal agenesis, and deafness [MeSH concept]
- hirschsprung disease with polydactyly, renal agenesis, and deafness [MeSH Supplementary Concept]
- santos mateus leal syndrome [MeSH Supplementary Concept]
HPO term(s)
- Aganglionic megacolon [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital deafness [HPO term]
- Hand polydactyly [HPO term]
- Hearing impairment [HPO term]
- Hypertelorism [HPO term]
- Unilateral renal agenesis [HPO term]
ORDO concept(s)
- Hirschsprung disease-deafness-polydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hirschsprung disease with polydactyly, renal agenesis, and deafness [MeSH Supplementary Concept]
- hirschsprung disease with polydactyly, renal agenesis, and deafness [MeSH concept]

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