| EEM syndrome | |
|---|---|
 | |
| EEM syndrome has an autosomal recessive pattern ofinheritance. | |
| Specialty | Medical genetics  |
EEM syndrome (orEctodermal dysplasia,Ectrodactyly andMacular dystrophysyndrome)[1] is anautosomalrecessive[2]congenital malformation disorder affectingtissues associated with theectoderm (skin,hair,nails,teeth), and also thehands, feet andeyes.[1][3]
EEM syndrome exhibits a combination of prominentsymptoms 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 ofhair-loss),[4] and dental abnormalities (hypodontia).[2]
EEM syndrome is caused bymutations in theP-cadheringene (CDH3).[5] Distinct mutations inCDH3 (located on humanchromosome16) 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 ofCDH3 to respond correctly to theP-cadherintranscription factorp63.[6]
The gene for p63 (TP73L, found on humanchromosome 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 anautosomal 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]
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