" /> Hirschsprung disease with polydactyly, renal agenesis, and deafness - CISMeF





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;

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27/07/2025


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