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Diseases

Genetic and Rare Diseases Information Center (GARD)

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IBIDS syndrome


Other Names for this Disease

  • Ichtyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature
  • Tay syndrome
  • Trichothiodystrophy with congenital ichtyosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Tay syndrome?

What are the symptoms of Tay syndrome?

What causes Tay syndrome? How is it inherited?

What treatment is available for Tay syndrome?

What is Tay syndrome?

Tay syndrome is a rare genetic disorder characterized by congenital ichthyosis (dry, fish-like scaly skin present at birth) and abnormal brittle hair (trichothiodystrophy).[1]
Last updated: 7/30/2013

What are the symptoms of Tay syndrome?

The most common symptoms of Tay syndrome are brittle hair (trichothiodystrophy); dry, thickened, scaling skin (ichthyosis); photosensitivity (abnormal light sensitivity); abnormal nails; and multiple developmental defects.[1] Other features include: low birth weight, short stature, mental retardation, delayed neuromuscular development and other central nervous system anomalies, dysplasia of nails, hypoplasia of subcutaneous fatty tissue, prematurely-aged facial appearance, hypogonadism, cataracts, osteosclerosis (abnormal increase in density and hardness of the bone), dysphonia, and increased susceptibility to infections.[2]
Last updated: 7/30/2013

What causes Tay syndrome? How is it inherited?

Although Tay syndrome is known to be genetic, the gene(s) associated with the condition is(are) unknown. Tay syndrome is inherited in an autosomal recessive pattern [1], which means two copies of the gene in each cell are altered (mutated). If both parents carry the gene for Tay syndrome, their children have a 25% chance of being affected with Tay syndrome. Additionally, each child has a 50% chance of being an unaffected carrier, like their parents, and a 25% chance of being a non-carrier.[1]
Last updated: 7/30/2013

What treatment is available for Tay syndrome?

Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum.[3]
Last updated: 7/30/2013

References
  1. Jamhekar SD, Dhongade AR. Tay syndrome. Indian J Pediatr. 2008 Mar; 75(3):288-290.
  2. Happle R, Traupe H, Gröbe H, Bonsmann G. The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr. 1984 Jan; 141(3):147-152.
  3. Foundation for Ichthyosis & Related Skin Types. http://www.firstskinfoundation.org/content.cfm/category_id/0/page_id/830. Accessed 4/15/2008.


Other Names for this Disease
  • Ichtyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature
  • Tay syndrome
  • Trichothiodystrophy with congenital ichtyosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.