Ectodermal dysplasia, ectrodactyly, and macular dystrophy

Also Known As:

EEM Syndrome; Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Ectodermal dysplasia, ectrodactyly, and macular dystrophy: 6
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Ectodermal Dysplasia: 505
      - Ectodermal dysplasia, ectrodactyly, and macular dystrophy: 6
  - Genetic Skin Diseases: 47
    - Ectodermal Dysplasia: 505
      - Ectodermal dysplasia, ectrodactyly, and macular dystrophy: 6
Musculoskeletal Diseases: 719
- Hand Deformities: 72
  - Congenital Hand Deformities: 2
    - Ectodermal dysplasia, ectrodactyly, and macular dystrophy: 6
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Congenital Upper Extremity Deformities
      - Congenital Hand Deformities: 2
        Ectodermal dysplasia, ectrodactyly, and macular dystrophy: 6
Eye Diseases: 3522
- Retinal Diseases: 3014
  - Retinal Degeneration: 4078
    - Macular Degeneration: 15480
      - Ectodermal dysplasia, ectrodactyly, and macular dystrophy: 6

Related Diseases

1.	Hypotrichosis
2.	Macular Degeneration (Age-Related Maculopathy)
3.	Ectodermal dysplasia, ectrodactyly, and macular dystrophy
4.	Syndactyly (Polysyndactyly)
5.	Atrophy

Experts

1.	Abdulmannan, Dina M: 1 article (01/2022)
2.	Al Sarireh, Fawaz: 1 article (01/2022)
3.	Al Zubi, Khalid: 1 article (01/2022)
4.	Alrawashdeh, Hamzeh Mohammad: 1 article (01/2022)
5.	Mwafi, Nesrin: 1 article (01/2022)
6.	Somkuwar, Areej: 1 article (01/2022)
7.	Paus, Ralf: 1 article (06/2015)
8.	Samuelov, Liat: 1 article (06/2015)
9.	Sprecher, Eli: 1 article (06/2015)
10.	Christiano, Angela M: 1 article (02/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Ectodermal dysplasia, ectrodactyly, and macular dystrophy:

1.	Cadherins (E-Cadherin)IBA 01/01/2022 - "Pathogenic variants in the Cadherin 3 (CDH3) gene are responsible for the occurrence of Hypotrichosis with Juvenile Macular Dystrophy (HJMD) and Ectodermal Dysplasia, Ectrodactyly and Macular Dystrophy Syndrome (EEMS), both of which are rare autosomal recessive disorders characterized by hypotrichosis and progressive macular dystrophy. " 06/01/2015 - "Loss-of-function mutations in CDH3, which encodes P-cadherin, result in two allelic autosomal recessive disorders: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly, and macular dystrophy (EEM) syndromes. " 02/01/2008 - "Recently, mutations in the P-cadherin gene (CDH3) have been shown to cause two inherited diseases in humans: hypotrichosis with juvenile macular dystrophy (HJMD) and ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). "
2.	Retinaldehyde (Retinal)IBA 01/01/2006 - "EEM syndrome differs from other ectrodactly syndromes by the characteristic findings in the ocular fundus showing extensive retinochoroidal atrophy with diffuse retinal pigmentation and mild arteriolar attenuation at the posterior pole. " 12/01/1989 - "The authors reported a 41-year-old female patient with EEM (ectodermal dysplasia, ectrodactyly and macular dystrophy) syndrome with hypotrichosis, teeth anomaly, split hand complex and retinal changes with prominent pigmentations located in the posterior pole of the retina. " 06/01/1999 - "We report on a Brazilian kindred in which two sibs presented with the complete form of EEM (ectodermal dysplasia, ectrodactyly, and macular dystrophy) syndrome with hypotrichosis, dental anomalies, syndactyly, and retinal changes with prominent pigmentation in the posterior pole of the retina. "