EEM syndrome
| EEM syndrome | |
|---|---|
 | |
| EEM syndrome has an autosomal recessive pattern of inheritance. | |
| Specialty | Medical genetics  |
EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome)[1] is an autosomal recessive[2] congenital malformation disorder affecting tissues associated with the ectoderm (skin, hair, nails, teeth), and also the hands, feet and eyes.[1][3]
Presentation
[edit]EEM syndrome exhibits a combination of prominent symptoms and features. These include: ectodermal dysplasia (systemic malformations of ectodermal tissues),[1] ectrodactyly ("lobster claw" deformity in the hands and feet),[3] macular dystrophy (a progressive eye disease),[2][3] syndactyly (webbed fingers or toes),[3] hypotrichosis (a type of hair-loss),[4] and dental abnormalities (hypodontia).[2]
Pathophysiology
[edit]EEM syndrome is caused by mutations in the P-cadherin gene (CDH3).[5] Distinct mutations in CDH3 (located on human chromosome 16) are responsible for the macular dystrophy and spectrum of malformations found in EEM syndrome,[5] due in part to developmental errors caused by the resulting inability of CDH3 to respond correctly to the P-cadherin transcription factor p63.[6]
The gene for p63 (TP73L, found on human chromosome 3) may also play a role in EEM syndrome.[6] Mutations in this gene are associated with the symptoms of EEM and similar disorders, particularly ectrodactyly.[7]
EEM syndrome is an autosomal recessive disorder,[2] which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - are required to inherit the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[citation needed]
Diagnosis
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Management
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See also
[edit]References
[edit]- ^ a b c Hayakawa M, Yanashima K, Kato K, Nakajima A, Yamauchi H (1989). "Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report)". Ophthalmol Paediatr Genet. 10 (4): 287–292. doi:10.3109/13816818909009884. PMID 2628819.
- ^ a b c d Yildirim MS, Ogun TC, Kamis U (2006). "Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution". Genet Couns. 17 (2): 149–153. PMID 16970031.
- ^ a b c d Senecky Y, Halpern GJ, Inbar D, Attias J, Shohat M (2001). "Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings". Am J Med Genet. 101 (3): 195–197. doi:10.1002/ajmg.1361. PMID 11424132.
- ^ Balarin Silva V, Simones AM, Marques-de-Faria AP (1999). "EEM syndrome: report of a family and results of a ten-year follow-up". Am J Med Genet. 20 (2): 95–99. doi:10.1076/opge.20.2.95.2290. PMID 10420194.
- ^ a b Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T (2005). "Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)". J Med Genet. 42 (4): 292–298. doi:10.1136/jmg.2004.027821. PMC 1736041. PMID 15805154.
- ^ a b Shimomura Y, Wajid M, Shapiro L, Christiano AM (2008). "P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle". Development. 135 (4): 743–753. doi:10.1242/dev.006718. PMID 18199584.
- ^ Zenteno JC, Berdon-Zapata V, Kofman-Alfaro S, Mutchinick O (2005). "Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of Tp63". Am J Med Genet A. 134 (1): 74–76. doi:10.1002/ajmg.a.30277. PMID 15736220. S2CID 38402286.