Thomas syndrome
MONDO:0018043Mondo
Findings
No curated finding names Thomas syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0018043), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
- Very frequent (80% to 99% of cases)
- Cleft upper lipHPOHP:0000204
- Very frequent (80% to 99% of cases)
- Multicystic kidney dysplasiaHPOHP:0000003
- Very frequent (80% to 99% of cases)
- OligohydramniosHPOHP:0001562
- Very frequent (80% to 99% of cases)
- Renal hypoplasia/aplasiaHPOHP:0008678
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- Hypoplastic left ventricleHPOHP:0004383
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: Thomas syndrome
- Also called
- Potter sequence-cleft lip/palate-cardiopathy syndrome