Entry - 235740 - HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS - OMIM

 
ICD+
235740

HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS


Clinical Synopsis
 

GI
- Hirschsprung megacolon
Limbs
- Polydactyly
GU
- Unilateral renal agenesis
HEENT
- Hypertelorism
- Congenital deafness
Inheritance
- Autosomal recessive
▲ Close

▼ TEXT

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).


▼ REFERENCES

  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. [PubMed: 3351909, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 3/26/1988
Edit History:
mimadm : 2/19/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
carol : 3/26/1988

235740

HIRSCHSPRUNG DISEASE WITH POLYDACTYLY, RENAL AGENESIS, AND DEAFNESS


ORPHA: 2155;  



TEXT

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).


REFERENCES

  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. [PubMed: 3351909] [Full Text: https://doi.org/10.1136/jmg.25.3.204]


Creation Date:
Victor A. McKusick : 3/26/1988

Edit History:
mimadm : 2/19/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
carol : 3/26/1988



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 17, 2024