Symptoms of TP63 Gene ADULT Syndrome Split Hand-Foot Malformation Genetic Test
The TP63 gene plays a critical role in the development and differentiation of epithelial tissues, including skin, limbs, and several other organs. Mutations in the TP63 gene can lead to a spectrum of genetic disorders, among which ADULT syndrome and Split Hand-Foot Malformation (SHFM) are notable. Recognizing the symptoms associated with these conditions is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for these conditions, priced at 4400 AED.
Understanding ADULT Syndrome
ADULT syndrome is an acronym for Aplasia of lacrimal and salivary glands, Dental anomalies, Unusual facial features, Limb defects, and Thyroid gland abnormalities. It is a rare condition that affects multiple parts of the body and is characterized by the following symptoms:
- Lacrimal and Salivary Gland Aplasia: This can lead to dry eyes and mouth, increasing the risk of dental decay and eye infections.
- Dental Anomalies: These may include missing teeth, small teeth (microdontia), or teeth with abnormal shapes.
- Unusual Facial Features: Affected individuals may have a distinctive facial appearance, including a long nose with a narrow bridge, small mouth, and a high forehead.
- Limb Defects: Limb abnormalities such as split hand/foot malformation (ectrodactyly), syndactyly (fusion of digits), or brachydactyly (short digits) are common.
- Thyroid Gland Abnormalities: Hypothyroidism or other thyroid-related issues may occur.
Split Hand-Foot Malformation (SHFM)
Split Hand-Foot Malformation is a congenital disorder characterized by the malformation of the hands and feet. The severity and extent of the malformation can vary significantly among affected individuals. Common symptoms of SHFM include:
- Ectrodactyly: The presence of a deep median cleft in the hand and/or foot, often described as lobster-claw deformity.
- Syndactyly: Fusion of fingers or toes, which may complicate the hand or foot’s appearance and function.
- Monodactyly or Oligodactyly: The presence of one or very few digits on the hand or foot.
- Aplasia or Hypoplasia: The underdevelopment or absence of certain bones in the hands and feet.
Genetic Testing for TP63 Gene Mutations
Genetic testing for mutations in the TP63 gene is essential for the diagnosis of ADULT syndrome and SHFM. DNA Labs UAE offers a specialized genetic test to identify these mutations, facilitating accurate diagnosis and guiding management strategies. The test is priced at 4400 AED and is a valuable tool for families affected by these conditions.
Early diagnosis through genetic testing can significantly impact the quality of life for individuals with ADULT syndrome or SHFM. It enables tailored medical and surgical interventions, informs family planning decisions, and provides insights into the prognosis. For more information on the TP63 gene ADULT syndrome and split hand-foot malformation genetic test, please visit DNA Labs UAE.
Conclusion
Understanding the symptoms associated with TP63 gene mutations is the first step toward seeking appropriate care and intervention. ADULT syndrome and Split Hand-Foot Malformation are complex conditions that require a multidisciplinary approach for management. With the genetic testing services provided by DNA Labs UAE, individuals and families can gain valuable insights into their genetic makeup, enabling informed decisions about their health and future.
