Rapp-Hodgkin syndrome
MONDO:0007508Mondo
Findings
No curated finding names Rapp-Hodgkin syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.
Definition from the Mondo Disease Ontology (MONDO:0007508), read 2026-09-29. CC BY 4.0.
Features
18 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.
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 1 of 1 reported patient
- Absent lacrimal punctumHPOHP:0001092
- 1 of 1 reported patient
- Carious teethHPOHP:0000670
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Cleft upper lipHPOHP:0000204
- 1 of 1 reported patient
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- Enamel hypoplasiaHPOHP:0006297
- 1 of 1 reported patient
- HypodontiaHPOHP:0000668
- 1 of 1 reported patient
- Nail dystrophyHPOHP:0008404
- 1 of 1 reported patient
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- Palmoplantar keratodermaHPOHP:0000982
- 1 of 1 reported patient
- Slow-growing hairHPOHP:0002217
- 1 of 1 reported patient
Show the remaining 6
- Sparse eyebrowHPOHP:0045075
- 1 of 1 reported patient
- Sparse eyelashesHPOHP:0000653
- 1 of 1 reported patient
- Stenosis of the external auditory canalHPOHP:0000402
- 1 of 1 reported patient
- Supernumerary nippleHPOHP:0002558
- 1 of 1 reported patient
- TaurodontiaHPOHP:0000679
- 1 of 1 reported patient
- Uncombable hairHPOHP:0030056
- 1 of 1 reported patient
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.
- TP63HGNC:15979
- Definitive · G2P · Autosomal dominant · 2017
- Definitive · G2P · Autosomal dominant · 2019