EEM syndrome

EEM syndrome exhibits a combination of prominent symptoms and features. These include: ectodermal dysplasia (systemic malformations of ectodermal tissues), ectrodactyly ("lobster claw" deformity in the hands and feet), macular dystrophy (a progressive eye disease), syndactyly (webbed fingers or toes),

name=e01/> hypotrichosis (a type of hair-loss),{{Cite journal |vauthors=Balarin Silva V, Simones AM, Marques-de-Faria AP |year=1999 |title=EEM syndrome: report of a family and results of a ten-year follow-up |journal= Ophthalmic Genetics|volume=20 |issue=2 |pages=95–99 |doi=10.1076/opge.20.2.95.2290 |pmid=10420194}} and dental abnormalities (hypodontia).

EEM syndrome is caused by mutations in the P-cadherin gene (CDH3).{{Cite journal |vauthors=Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T |year=2005 |title=Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) |journal=J Med Genet |volume=42 |issue=4 |pages=292–298 |doi=10.1136/jmg.2004.027821 |pmc=1736041 |pmid=15805154}} Distinct mutations in CDH3 (located on human chromosome 16) are responsible for the macular dystrophy and spectrum of malformations found in EEM syndrome, due in part to developmental errors caused by the resulting inability of CDH3 to respond correctly to the P-cadherin transcription factor p63.{{Cite journal |vauthors=Shimomura Y, Wajid M, Shapiro L, Christiano AM |year=2008 |title=P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle |journal=Development |volume=135 |issue=4 |pages=743–753 |doi=10.1242/dev.006718 |pmid=18199584 |doi-access=free}}

The gene for p63 (TP73L, found on human chromosome 3) may also play a role in EEM syndrome. Mutations in this gene are associated with the symptoms of EEM and similar disorders, particularly ectrodactyly.{{Cite journal |vauthors=Zenteno JC, Berdon-Zapata V, Kofman-Alfaro S, Mutchinick O |year=2005 |title=Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of Tp63 |journal= American Journal of Medical Genetics Part A|volume=134 |issue=1 |pages=74–76 |doi=10.1002/ajmg.a.30277 |pmid=15736220 |s2cid=38402286}}

EEM syndrome is an autosomal recessive disorder, 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.{{cn|date=November 2020}}

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• Germ layer
• Integumentary system
• Hay-Wells syndrome

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{{Medical resources

| DiseasesDB =

| ICD10 = {{ICD10|Q|82|4|q|82}}

| ICD9 = {{ICD9|757.31}}

| ICDO =

| OMIM = 225280

| MedlinePlus =

| eMedicineSubj =

| eMedicineTopic =

| MeshID =

| Orphanet = 1897

| SNOMED CT = 720856002

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{{Congenital malformations and deformations of integument}}

Category:Autosomal recessive disorders

Category:Rare syndromes