Eec syndrome without cleft lip palate
Eec syndrome without cleft lip palate is a rare genetic disorder characterized by the absence of a cleft lip or cleft palate, despite the presence of other symptoms typically associated with Eec syndrome.
Overview[edit | edit source]
Eec syndrome, also known as Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome, is a complex disorder that affects multiple parts of the body. The syndrome is typically characterized by three main features: ectrodactyly, ectodermal dysplasia, and cleft lip or cleft palate. However, in some cases, individuals with Eec syndrome may not exhibit a cleft lip or cleft palate, leading to the specific classification of Eec syndrome without cleft lip palate.
Symptoms[edit | edit source]
The symptoms of Eec syndrome without cleft lip palate are similar to those of the general Eec syndrome, with the exception of the absence of a cleft lip or cleft palate. These symptoms may include:
- Ectrodactyly: This is a condition where the fingers or toes are abnormally developed, often resulting in the absence of one or more digits.
- Ectodermal dysplasia: This refers to a group of conditions where the ectodermal structures, such as the skin, hair, nails, and sweat glands, are abnormally developed.
- Eye abnormalities: Individuals with Eec syndrome may also exhibit various eye abnormalities, such as cataracts, glaucoma, or strabismus.
Causes[edit | edit source]
Eec syndrome without cleft lip palate is caused by mutations in the TP63 gene. This gene provides instructions for making a protein that is crucial for the development of structures in the ectodermal layer of the embryo, including the skin, hair, nails, teeth, and certain glands.
Diagnosis[edit | edit source]
Diagnosis of Eec syndrome without cleft lip palate is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm a diagnosis by identifying a mutation in the TP63 gene.
Treatment[edit | edit source]
Treatment for Eec syndrome without cleft lip palate is symptomatic and supportive. This may include surgery to correct ectrodactyly, dental care to manage ectodermal dysplasia, and regular eye exams to monitor and treat eye abnormalities.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Eec syndrome without cleft lip palate is a rare disease.
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Contributors: Prab R. Tumpati, MD
