Entry - 274265 - THYMIC-RENAL-ANAL-LUNG DYSPLASIA - OMIM

 
ICD+
274265

THYMIC-RENAL-ANAL-LUNG DYSPLASIA


Clinical Synopsis
 

Endocrine
- Unilobed or absent thymus
GU
- Renal agenesis/dysgenesis
- Ureteral agenesis/dysgenesis
- Cystic renal mass
Growth
- Intrauterine growth retardation (IUGR)
Pulmonary
- Unilobed lung
GI
- Imperforate anus
Misc
- Oligohydramnios
Lab
- Low amniotic fluid disaccharidases
Inheritance
- Autosomal recessive
▲ Close

▼ TEXT

Rudd et al. (1990) reported 3 sisters with a syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR). Two of the 3 infants had a unilobed lung and imperforate anus. Recurrence was detected prenatally by the presence of oligohydramnios and IUGR, a unilateral echogenic cystic mass in the renal fossa, and low amniotic fluid disaccharidases associated with imperforate anus. Autosomal recessive inheritance was suggested, but an unrecognized chromosome imbalance was also considered a possibility. Two of the sibs had been included in the series of cases of the Potter sequence reported by Curry et al. (1984).


▼ REFERENCES

  1. Curry, C. J. R., Jensen, K., Holland, J., Miller, L., Hall, B. D. The Potter sequence: a clinical analysis of 80 cases. Am. J. Med. Genet. 19: 679-702, 1984. [PubMed: 6393764, related citations] [Full Text]

  2. Rudd, N. L., Curry, C., Chen, K. T. K., Capusten, B., Trevenen, C. L. Thymic-renal-anal-lung dysplasia in sibs: a new autosomal recessive error of early morphogenesis. Am. J. Med. Genet. 37: 401-405, 1990. [PubMed: 2260572, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 12/12/1990
Edit History:
mimadm : 3/12/1994
supermim : 3/17/1992
carol : 12/12/1990

274265

THYMIC-RENAL-ANAL-LUNG DYSPLASIA


SNOMEDCT: 723555007;   ORPHA: 3326;  



TEXT

Rudd et al. (1990) reported 3 sisters with a syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR). Two of the 3 infants had a unilobed lung and imperforate anus. Recurrence was detected prenatally by the presence of oligohydramnios and IUGR, a unilateral echogenic cystic mass in the renal fossa, and low amniotic fluid disaccharidases associated with imperforate anus. Autosomal recessive inheritance was suggested, but an unrecognized chromosome imbalance was also considered a possibility. Two of the sibs had been included in the series of cases of the Potter sequence reported by Curry et al. (1984).


REFERENCES

  1. Curry, C. J. R., Jensen, K., Holland, J., Miller, L., Hall, B. D. The Potter sequence: a clinical analysis of 80 cases. Am. J. Med. Genet. 19: 679-702, 1984. [PubMed: 6393764] [Full Text: https://doi.org/10.1002/ajmg.1320190408]

  2. Rudd, N. L., Curry, C., Chen, K. T. K., Capusten, B., Trevenen, C. L. Thymic-renal-anal-lung dysplasia in sibs: a new autosomal recessive error of early morphogenesis. Am. J. Med. Genet. 37: 401-405, 1990. [PubMed: 2260572] [Full Text: https://doi.org/10.1002/ajmg.1320370321]


Creation Date:
Victor A. McKusick : 12/12/1990

Edit History:
mimadm : 3/12/1994
supermim : 3/17/1992
carol : 12/12/1990



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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 4, 2024