EEM syndrome
Synonyms: Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EEM syndrome | Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome |
| fr | Syndrome EEM | Syndrome de dysplasie ectodermique-ectrodactylie-dystrophie maculaire |
| de | EEM-Syndrom | Dysplasie, ektodermale - Ektrodaktylie - Makuladystrophie |
| es | Síndrome EEM | Displasia ectodérmica-ectrodactilia-distrofia macular |
| it | Sindrome EEM | Displasia ectodermica - ectrodattilia - distrofia maculare |
| nl | EEM-syndroom | Ectodermale dysplasie - ectrodactylie - maculadystrofie-syndroom |
| pt | Síndrome EEM | Síndrome de displasia ectodérmica-ectrodactilia-distrofia da mácula |
| pl | Zespół EEM | Dysplazja ektodermalna - ektrodaktylia - dystrofia plamki |
| cs | EEM syndrom | Syndrom zahrnující ektodermální dysplázii, ektrodaktylii a makulární dystrofii |
| uk | Синдром EEM | Синдром ектодермальної дисплазії-екстродактилії-макулярної дистрофії |
| zh | 外胚层发育不良、缺指（趾）畸形和黄斑营养不良综合征 | 外胚层发育不良-缺指（趾）畸形-黄斑营养不良综合征 |
| tr | EEM sendromu | Ektodermal displazi-ektrodaktili-maküler distrofi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225280 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009155 | E | validated | |
| MeSH | C536190 | E | validated | |
| UMLS | C1857041 | E | validated | |
| GARD | 2078 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:716427Rare disorder with progressive predominantly macular disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CDH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1762 | ENSG00000062038 | 114021 | 16q22.1 | cadherin 3 | 15805154[PMID]_22140374[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 families | Worldwide | Family(ies) | Validated | 15805154[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0100257 | Ectrodactyly | |
| HP:0007754 | Macular dystrophy | |
| HP:0000488 | Retinopathy | |
| HP:0002231 | Sparse body hair | |
| HP:0002209 | Sparse scalp hair | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000504 | Abnormality of vision | |
| HP:0002223 | Absent eyebrow | |
| HP:0000670 | Carious teeth | |
| HP:0006101 | Finger syndactyly | |
| HP:0000691 | Microdontia | |
| HP:0001592 | Selective tooth agenesis | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0000486 | Strabismus | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1897
- This record as JSON: /data/d/1897.json