ADULT syndrome
Findings
No curated finding names ADULT syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.
Definition from the Mondo Disease Ontology (MONDO:0007072), read 2026-09-29. CC BY 4.0.
Features
27 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 nail morphologyHPOHP:0001597
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Fingernail dysplasiaHPOHP:0100798
- Very frequent (80% to 99% of cases)
- FrecklingHPO · MondoHP:0001480
- Very frequent (80% to 99% of cases)
- Melanocytic nevusHPOHP:0000995
- Very frequent (80% to 99% of cases)
- Nail pitsHPOHP:0001803
- Very frequent (80% to 99% of cases)
- Nasolacrimal duct obstructionHPOHP:0000579
- Very frequent (80% to 99% of cases)
- Skin ulcerHPOHP:0200042
- Very frequent (80% to 99% of cases)
- Split footHPOHP:0001839
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Thin skinHPOHP:0000963
- Very frequent (80% to 99% of cases)
- Toe syndactylyHPOHP:0001770
- Very frequent (80% to 99% of cases)
- Toenail dysplasiaHPOHP:0100797
- Very frequent (80% to 99% of cases)
- Abnormal dental morphologyHPOHP:0006482
- Frequent (30% to 79% of cases)
- Absent nippleHPOHP:0002561
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
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 · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: ADULT syndrome
- Also called
- acro-dermato-ungual-lacrimal-tooth syndromeacrodermatounguallacrimaltooth syndromepigment anomaly-ectrodactyly-hypodontia syndrome