EEM syndrome

Presentation

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), and dental abnormalities (hypodontia).

Pathophysiology

EEM syndrome is caused by mutations in the P-cadherin gene (CDH3). Distinct mutations in CDH3 (located on human chromosome 16) are responsible for the macular dystrophy and spectrum of malformations found in EEM syndrome,

The gene for p63 (TP73L, found on human chromosome 3) may also play a role in EEM syndrome.

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.

References

References

1. (1989). "Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report)". Ophthalmic Paediatrics and Genetics.
2. (2006). "Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution". Genetic Counseling.
3. (2001). "Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings". American Journal of Medical Genetics.
4. (1999). "EEM syndrome: report of a family and results of a ten-year follow-up". Ophthalmic Genetics.
5. (2005). "Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)". J Med Genet.
6. (2008). "P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle". Development.
7. (2005). "Isolated ectrodactyly caused by a heterozygous missense mutation in the transactivation domain of Tp63". American Journal of Medical Genetics Part A.