EEM syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY Ectodermal dysplasia - ectrodactyly - macular dystrophy |
| Number of Symptoms | 29 |
| OrphanetNr: | 1897 |
| OMIM Id: |
225280
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 7 families [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease Genetic macular dystrophy -Rare eye disease -Rare genetic disease Syndrome with limb reduction defects -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0006482) | Abnormality of dental morphology | Very frequent [Orphanet] | 81 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000653) | Sparse eyelashes | 58 / 7739 | ||||
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(HPO:0100840) | Aplasia/Hypoplasia of the eyebrow | Frequent [Orphanet] | 117 / 7739 | |||
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(HPO:0000691) | Microdontia | Frequent [Orphanet] | 104 / 7739 | |||
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(HPO:0009804) | Reduced number of teeth | Frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000687) | Widely spaced teeth | 40 / 7739 | ||||
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(HPO:0000535) | Sparse and thin eyebrow | 76 / 7739 | ||||
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(HPO:0001592) | Selective tooth agenesis | 16 / 7739 | ||||
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(HPO:0002209) | Sparse scalp hair | 59 / 7739 | ||||
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(HPO:0000670) | Carious teeth | Frequent [Orphanet] | 145 / 7739 | |||
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(HPO:0000478) | Abnormality of the eye | Frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0007754) | Macular dystrophy | 26 / 7739 | ||||
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(HPO:0000488) | Retinopathy | Very frequent [Orphanet] | 75 / 7739 | |||
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(HPO:0000510) | Rod-cone dystrophy | Very frequent [Orphanet] | 266 / 7739 | |||
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(HPO:0008059) | Aplasia/Hypoplasia of the macula | Very frequent [Orphanet] | 21 / 7739 | |||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0100257) | Ectrodactyly | 27 / 7739 | ||||
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(HPO:0009473) | Joint contracture of the hand | 84 / 7739 | ||||
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(HPO:0012385) | Camptodactyly | 113 / 7739 | ||||
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(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
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(HPO:0001171) | Split hand | 72 / 7739 | ||||
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(HPO:0009380) | Aplasia of the fingers | Very frequent [Orphanet] | 51 / 7739 | |||
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(HPO:0006101) | Finger syndactyly | Frequent [Orphanet] | 198 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0000968) | Ectodermal dysplasia | 46 / 7739 | ||||
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 | |||
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(OMIM) | Normal sweating | 13 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
In an isolated population on a remote island in Japan, Ohdo et al. (1983) observed a kindred with 6 cases of ectodermal dysplasia, ectrodactyly associated with syndactyly or cleft hand or both, and macular dystrophy which was presumed ... |
| Molecular genetics OMIM |
In affected individuals with EEM from the Danish family previously reported by Albrectsen and Svendsen (1956) and the Brazilian family previously reported by Balarin Silva et al. (1999), Kjaer et al. (2005) identified homozygosity for mutations in CDH3: ... |