EEM Syndrome Clinical CharacteristicsOcular Features: Granular pigmentation and a grayish coloration of the retina may be present. The peripheral retina usually appears normal but the posterior pole and macula have pigmentary changes consisting of clumping and geographic atrophy. Fluorescein angiography shows patchy areas of hyperfluorescence. Patients in their 30s have been reported to have normal ERGs in one study. Reduced acuity can be noted in the first decade but progression is slow. Acuity levels in the 20/200 range may be seen in the fourth decade of life. Systemic Features: Ectodermal dysplasia with ectrodactyly and syndactyly are prominent features of this syndrome. Hypotrichosis of the scalp, eyebrows and eyelashes is often seen. Partial anodontia and diastema are also features. Syndactyly of the toes is present more frequently than found among the fingers. GeneticsThis is an autosomal recessive disorder resulting from mutations in the CDH3 gene (16q22.1). EEM syndrome is allelic to the Hypotrichosis with Macular Dystrophy syndrome (601553). However, the latter lacks the dental, limb, and digital anomalies as well as the hypotrichosis of eyebrows and eyelashes. Pedigree: Autosomal recessiveTreatmentTreatment Options: No treatment is available for this disease. ReferencesArticle Title: Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet. 2005 Apr;42(4):292-8. PubMed ID: 15805154 EEM syndrome: report of a family and results of a ten-year follow-up Balarin Silva V, Sim?ues AM, Marques-de-Faria AP. EEM syndrome: report of a family and results of a ten-year follow-up. Ophthalmic Genet. 1999 Jun;20(2):95-9. PubMed ID: 10420194 Read more about EEM Syndrome
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet. 2005 Apr;42(4):292-8. PubMed ID: 15805154
EEM syndrome: report of a family and results of a ten-year follow-up Balarin Silva V, Sim?ues AM, Marques-de-Faria AP. EEM syndrome: report of a family and results of a ten-year follow-up. Ophthalmic Genet. 1999 Jun;20(2):95-9. PubMed ID: 10420194
