EEM syndrome
Findings
No curated finding names EEM syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
EEM syndrome is characterized by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).
Definition from the Mondo Disease Ontology (MONDO:0009155), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
23 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 dental morphologyHPOHP:0006482
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- EctrodactylyHPOHP:0100257
- Very frequent (80% to 99% of cases)
- Macular dystrophyHPOHP:0007754
- Very frequent (80% to 99% of cases)
- RetinopathyHPOHP:0000488
- Very frequent (80% to 99% of cases)
- Sparse body hairHPOHP:0002231
- Very frequent (80% to 99% of cases)
Show the remaining 11
- MicrodontiaHPOHP:0000691
- Frequent (30% to 79% of cases)
- Selective tooth agenesisHPOHP:0001592
- Frequent (30% to 79% of cases)
- Widely spaced teethHPOHP:0000687
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
- 1-4 finger cutaneous syndactylyHPOHP:0010707
- 1 of 5 reported patients
- 2-3 finger cutaneous syndactylyHPOHP:0001233
- 1 of 5 reported patients
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.
- CDH3HGNC:1762
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: EEM syndrome
- Also called
- ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome