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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
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Your Question

I am interested in learning about Tay syndrome. Can you help? I wish to know: What it is? When was it first described? What are the main symptoms? What are the treatments? What is the average life expectancy for sufferers?

Our Answer

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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

When was Tay syndrome first described?

Tay syndrome was first reported in 1971 by Chong Hai Tay. [2] Tay reported three affected children in a family of seven. The children’s parents were related (consanguineous). At birth the children (two males and one female) had red scaling skin and short sparse scalp hair, eyebrows, and eye lashes. After several months the redness was gone but scaling persisted on the scalp, forehead, chest, parts of the trunk, and extensors of the limbs. The palms and soles were thickened and cracked. The hair was noted to break readily with gentle trauma. The children had an absence of subcutaneous fat, close-set prominent eyes, beaked nose, sunken cheeks, receding chin, and bat-like ears. There was mental and physical retardation. Recently, there has been evidence on MRI of almost total lack of myelin within the cerebral hemispheres and patchy hypomyelination (reduced myelin formation) of the cerebellum.[3]
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 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.[4]
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.[5]
Last updated: 7/30/2013

How many people in the world have the condition? How many in the United Kingdom?

It is unknown how many people have Tay syndrome. Several journal articles report approximately 15 cases of this syndrome.[1][4] Approximately 75 cases have been reported worldwide.[6]
Last updated: 7/30/2013

What is the average life expectancy for individuals with Tay syndrome?

The average life expectancy for people with Tay syndrome in not known. However, treatments for symptoms increase life expectancy.[7]
Last updated: 7/30/2013

References
  • Jamhekar SD, Dhongade AR. Tay syndrome. Indian J Pediatr. 2008 Mar; 75(3):288-290.
  • Tay CH. Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder. Arch Dermatol. 1971; 104(1):4-13.
  • Baden HP. Chapter 155 Ichthyosiform Dermatoses. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin's: Principles and Practices of Medical Genetics. Vol 2. 5th ed. Philadelphia, PA: Churchill Livingstone; 2007: 3440. .
  • Happle R, Traupe H, Gröbe H, Bonsmann G. The Tay syndrome (congenital ichthyosis with trichothiodystrophy). Eur J Pediatr. 1984 Jan; 141(3):147-152.
  • Foundation for Ichthyosis & Related Skin Types. http://www.firstskinfoundation.org/content.cfm/category_id/0/page_id/830. Accessed 4/15/2008.
  • Wiedemann HR, Kunze J, Grosse FR. Clinical Syndromes. 3th ed. Italy: Mosby-Wolfe; 1997..
  • Wenz W, Saleh H, Perlick C. Orthopaedic rehabilitation in a case of Tay-syndrome.. Pediatr Rehabil. 1999 Jul-Sep; 3(3):133-135.