acrofacial dysostosis, Weyers type
Findings
No curated finding names acrofacial dysostosis, Weyers type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
Definition from the Mondo Disease Ontology (MONDO:0008673), read 2026-09-29. CC BY 4.0.
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 fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal oral frenulum morphologyHPOHP:0000190
- Very frequent (80% to 99% of cases)
- Abnormal toenail morphologyHPOHP:0008388
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Advanced eruption of teethHPOHP:0006288
- Very frequent (80% to 99% of cases)
- Conical toothHPOHP:0000698
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Solitary median maxillary central incisorHPOHP:0006315
- Very frequent (80% to 99% of cases)
- Toenail dysplasiaHPOHP:0100797
- Very frequent (80% to 99% of cases)
- Abnormal antihelix morphologyHPOHP:0009738
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Overlapping fingersHPOHP:0010557
- Frequent (30% to 79% of cases)
- Small handHPOHP:0200055
- Frequent (30% to 79% of cases)
Genes
2 genes
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.
- EVCHGNC:3497
- Definitive · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
- EVC2HGNC:19747
- Definitive · G2P · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: acrofacial dysostosis, Weyers type
- Also called
- curry-Hall syndromeWeyers acrodental dysostosisWeyers acrofacial dysostosis