Thomas Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Thomas syndrome is a very rare congenital disease with the main features of kidney abnormalities, heart defects and cleft lip or palate.
Synonyms are: Potter sequence - cleft lip or palate - cardiopathy; english Potter sequence cleft cardiopathy
The name refers to the first authors of the first description from 1993 by the American pediatrician I. T. Thomas and colleagues.
The disease is not to be confused with Dejerine-Thomas syndrome , a cerebellar cortical atrophy.
distribution
The frequency is given as less than 1 in 1,000,000, so far fewer than 10 patients have been described. The inheritance is presumably autosomal - recessive .
root cause
The cause is not yet known.
Differential diagnosis
The Holzgreve-Wagner-Rehder syndrome with additional polydactyly must be distinguished .
literature
- J. Zlotogora, I. Ariel, A. Ornoy, S. Yagel, AI Eidelman: Thomas syndrome: potter sequence with cleft lip / palate and cardiac anomalies. In: American journal of medical genetics. Vol. 62, No. 3, March 1996, pp. 224-226, doi : 10.1002 / (SICI) 1096-8628 (19960329) 62: 3 <224 :: AID-AJMG4> 3.0.CO; 2-T , PMID 8882777 .
Individual evidence
- ↑ a b Thomas Syndrome. In: Orphanet (Rare Disease Database).
- ^ IT Thomas, GM Honore, T. Jewett, H. Velvis, P. Garber, C. Ruiz: Holzgreve syndrome: recurrence in sibs. In: American journal of medical genetics. Vol. 45, No. 6, March 1993, pp. 767-769, doi: 10.1002 / ajmg.1320450621 , PMID 8456859 .
