Telecanthus-Hypospadias Syndrome (THS) is a rare congenital disorder caused by a genetic mutation that affects the development of the eyes and genitalia. It is characterized by the presence of telecanthus, which is a condition in which the inner corners of the eyes are abnormally far apart, and hypospadias, which is a condition in which the urethral opening is located on the underside of the penis instead of at the tip.
The exact cause of THS is unknown, but it is believed to be caused by a genetic mutation. In some cases, the disorder is inherited in an autosomal dominant manner, which means that only one copy of the mutated gene is needed to cause the disorder. In other cases, the disorder is inherited in an autosomal recessive manner, which means that both copies of the mutated gene must be present for the disorder to be expressed.
The most common symptom of THS is telecanthus, which is typically detected at birth. Other symptoms can include hypospadias, which can range from mild to severe, and cryptorchidism, which is a condition in which one or both testicles fail to descend into the scrotum. Other associated symptoms can include cleft lip and/or palate, hearing loss, and hydrocephaly.
Diagnosis of THS is usually based on the presence of telecanthus and hypospadias. It is important to note that not all cases of telecanthus and hypospadias are caused by THS, and other tests may be necessary to confirm the diagnosis. These tests may include imaging studies such as X-ray, ultrasound, or MRI to assess for any associated structural abnormalities and genetic testing to look for the genetic mutation associated with THS.
Unfortunately, there is no cure for THS, and treatment is aimed at managing the symptoms. Treatment may include surgical correction of the telecanthus and hypospadias, as well as management of any associated hearing loss, cleft lip and/or palate, hydrocephaly, and cryptorchidism. In addition, genetic counseling may be recommended to help families understand the risks of passing the disorder on to future generations.
In conclusion, Telecanthus-Hypospadias Syndrome is a rare genetic disorder that affects the development of the eyes and genitalia. It is characterized by the presence of telecanthus and hypospadias, and can be associated with other symptoms such as hearing loss, cleft lip and/or palate, and hydrocephaly. Diagnosis is usually based on the presence of telecanthus and hypospadias, and treatment is aimed at managing the symptoms. Genetic counseling is also recommended to help families understand the risks of passing the disorder on to future generations.
References
Konrad, K., Häfner, H. M., & Rösch, W. H. (2014). Telecanthus-hypospadias syndrome – a rare entity. European Journal of Medical Genetics, 57(11), 566–570. https://doi.org/10.1016/j.ejmg.2014.07.004
Senter, L., Romitti, P. A., & Druschel, C. M. (2009). Telecanthus-hypospadias syndrome: A review. American Journal of Medical Genetics Part A, 149A(9), 2105–2111. https://doi.org/10.1002/ajmg.a.32958
Farooqi, R., & El-Hakim, T. (2016). Telecanthus-Hypospadias Syndrome. In StatPearls [Internet]. StatPearls Publishing. http://www.ncbi.nlm.nih.gov/books/NBK526585/