Eec syndrome
Eec syndrome is a rare genetic disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and cleft lip/cleft palate. The syndrome is also known as Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.
Etiology[edit | edit source]
Eec syndrome is caused by mutations in the TP63 gene, which provides instructions for making a protein that is crucial for the development and maintenance of various tissues, including skin, hair, teeth, and glands.
Clinical Features[edit | edit source]
Ectrodactyly[edit | edit source]
Ectrodactyly, also known as split hand/foot malformation, is a condition where the central digits are absent, and the hand or foot is cleft where the middle digits should be. This gives the appearance of a lobster claw.
Ectodermal Dysplasia[edit | edit source]
Ectodermal dysplasia refers to a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. In Eec syndrome, individuals may have sparse hair, abnormal teeth, and inability to sweat due to lack of sweat glands.
Cleft Lip/Cleft Palate[edit | edit source]
Cleft lip and cleft palate are openings or splits in the upper lip or roof of the mouth (palate) that occur when developing facial structures in an unborn baby do not close completely.
Diagnosis[edit | edit source]
Diagnosis of Eec syndrome is based on clinical examination and confirmed by genetic testing for mutations in the TP63 gene.
Treatment[edit | edit source]
Treatment for Eec syndrome is symptomatic and supportive, and may include surgery for cleft lip/palate and ectrodactyly, dental care for tooth abnormalities, and measures to manage inability to sweat.
Prognosis[edit | edit source]
The prognosis for individuals with Eec syndrome varies depending on the severity of the symptoms. With appropriate management, most individuals can lead a normal life.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Eec syndrome is a rare disease.
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