EEM syndrome

EEM syndrome (Ectodermal dysplasia, Ectrodactyly, and Macular dystrophy syndrome) is an extremely rare autosomal recessive genetic disorder characterized by the triad of ectodermal dysplasia, ectrodactyly (split hand/foot malformation), and macular dystrophy of the eye. The condition affects multiple body systems including the skin and its appendages (ectodermal structures), the limbs, and the eyes. Ectodermal dysplasia features include sparse hair (hypotrichosis), abnormal or absent teeth (hypodontia or anodontia), and dry skin. Ectrodactyly manifests as lobster-claw deformity of the hands and/or feet, with absence or fusion of central digits. The macular dystrophy component involves progressive degeneration of the central retina, which can lead to significant visual impairment. EEM syndrome has been linked to mutations in the CDH3 gene, which encodes P-cadherin, a calcium-dependent cell adhesion protein important in the development of ectodermal tissues, limb formation, and retinal pigment epithelium. Only a small number of families have been reported worldwide, predominantly from consanguineous backgrounds, consistent with its autosomal recessive inheritance pattern. There is currently no cure or disease-specific treatment for EEM syndrome. Management is supportive and multidisciplinary, involving dermatologists for skin care, dentists or prosthodontists for dental abnormalities, orthopedic surgeons for limb malformations, and ophthalmologists for monitoring and managing macular dystrophy. Low-vision aids may be beneficial for patients with significant visual loss. Genetic counseling is recommended for affected families.

Common questions about EEM syndrome