palmoplantar keratoderma-esophageal carcinoma syndrome
Findings
No curated finding names palmoplantar keratoderma-esophageal carcinoma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An inherited condition characterized by palmoplantar keratoderma and esophageal cancer. The palmoplantar keratoderma usually begins around age 10, and esophageal cancer may form after age 20. This condition is caused by a mutation in the RHBDF2 gene and is inherited in an autosomal dominant pattern.
Definition from the Mondo Disease Ontology (MONDO:0007856), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
19 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 large intestine morphologyHPOHP:0002250
- Very frequent (80% to 99% of cases)
- Esophageal neoplasmHPOHP:0100751
- Very frequent (80% to 99% of cases)
- Gastrointestinal hemorrhageHPOHP:0002239
- Very frequent (80% to 99% of cases)
- Nausea and vomitingHPOHP:0002017
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Abnormal esophagus physiologyHPOHP:0025270
- Frequent (30% to 79% of cases)
Show the remaining 7
- Poor suckHPOHP:0002033
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
- Clubbing of toesHPOHP:0100760
- Occasional (5% to 29% of cases)
- Diffuse palmoplantar hyperkeratosisHPOHP:0007447
- Juvenile onset
- Esophageal carcinomaHPOHP:0011459
- Adult onset
- Follicular hyperkeratosisHPOHP:0007502
- Oral leukoplakiaHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RHBDF2HGNC:20788
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: palmoplantar keratoderma-esophageal carcinoma syndrome
- Also called
- Bennion-Patterson syndromeHowell-Evans syndromekeratosis palmoplantaris-esophageal carcinoma syndromepalmoplantar hyperkeratosis-esophageal carcinoma syndrometylosis-oesophageal carcinoma syndrome