Definition

What is Tay syndrome?

Tay Syndrome which is also known by the name of Trichothiodystrophy is an inherited pathological condition in which the affected individual has extremely brittle hairs along with short stature, intellectual disability, and fertility issues.

How common is Tay syndrome?

Tay syndrome is extremely common. The exact prevalence of this condition is not known, but up to 1991, clinical data of 15 cases with IBIDS were published. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Tay syndrome?

The common symptoms of Tay syndrome are:

  • Brittle hairs which will be observed at the time of birth
  • Scaling of the skin at various areas of the body
  • Intellectual impairments
  • Short stature
  • Extreme sensitivity to light. When photosensitivity is present, the syndrome is known as PIBIDS syndrome; without photosensitivity it is referred to as the IBIDS syndrome.
  • Abnormally short, ridged and weak nails
  • Protruded ears
  • Beaked nose
  • Seizures, tremors, inadequate muscle contractions
  • Undescended testes in males and the external genitalia in females
  • Bone and teeth abnormalities

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Tay syndrome?

In cases of Tay Syndrome, the genes which are responsible for repair of damage of DNA are defective.

Tay Syndrome is an inherited condition and follows an autosomal recessive pattern of inheritance meaning that two copies of the faulty gene, one from each parent is required for a child to develop Tay Syndrome. If the child gets a normal gene from one parent and a faulty gene from the other parent then he or she will be a carrier for this condition.

The chances of a couple who are both carriers of the defective gene passing the condition to the child are about 50%.

Risk factors

What increases my risk for Tay syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Tay syndrome diagnosed?

Please consult with your doctor for further information.

How is Tay syndrome treated?

Special education may be required to address the issues of developmental delays and intellectual impairments.

Skin softening agents are recommended to treat the scaling of the skin and other skin related abnormalities associated with Tay Syndrome. The most recommended skin products for treatment of skin conditions caused by Tay Syndrome are those products which contain alpha-hydroxy acids.

Nervous system abnormalities with seizures can be controlled with anticonvulsants. Antibiotics can be used to treat the frequent bouts of infections that are commonly associated with Tay Syndrome.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Tay syndrome?

The following lifestyles and home remedies might help you cope with Tay syndrome:

  • Individuals with Tay Syndrome who are extremely photosensitive are recommended to avoid sun exposure as much as possible.
  • Skin softening products need to be used immediately after bathing when the skin is still moist for best effectiveness.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

 

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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