Ectodermal dysplasia is a rare condition that can manifest as EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate). The symptoms, which can range in severity from mild to severe, most frequently include missing or misaligned fingers and/or toes (also known as ectrodactyly or split hand/foot malformation), abnormalities of the hair and glands, a cleft lip and/or palate, recognizable facial features, and abnormalities of the eyes and urinary tract.
Depending on the underlying reason, there are two distinct kinds of EEC syndrome. EEC syndrome type 3 (EEC3), which is brought on by genetic abnormalities in the TP63 gene, affects more than 90% of people. EEC syndrome type 1 is likely to be caused by a genetic alteration in a region of chromosome 7 in those who have the condition (EEC1). Autosomal dominant inheritance governs EEC syndrome.
No cure available
Management and treatment
1. The particular diagnosis, as well as the kind and degree of accompanying symptoms, are frequently factors in the management and therapy of disease.
2. When there are several experts involved, a primary care provider (PCP) might assist in coordinating the care.
3. Patients and families can actively participate in making healthcare decisions when they are aware of the risks and advantages of various solutions.
The prognosis is favorable, and the life expectancy is almost normal. Hypohidrosis (reduction/absence of sweat glands) poses the most serious problems since, if treated improperly, it can result in seizures, coma, and eventually death.
Abnormal dental enamel morphology,Abnormality of the inner ear,Carious teeth,Coarse hair,Dry skin
Ectrodactyly,Ectodermal dysplasia,Facial clefts