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

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

Ectrodactyly

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

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

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

Diagnosis of Eec syndrome is based on clinical examination and confirmed by genetic testing for mutations in the TP63 gene.

Treatment

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

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

• Genetic disorders
• Ectrodactyly
• Ectodermal dysplasia
• Cleft lip and cleft palate
• TP63 gene

NIH genetic and rare disease info

• NIH info on Eec syndrome

Eec syndrome is a rare disease.

Eec syndrome Resources
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