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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
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Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for IBIDS syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the face -
Abnormality of the thorax -
Asthma -
Autosomal recessive inheritance -
Brittle hair -
Cataract -
Congenital nonbullous ichthyosiform erythroderma -
Cutaneous photosensitivity -
Flexion contracture -
Fragile nails -
Hypogonadism -
IgG deficiency -
Intellectual disability -
Intestinal obstruction -
Lack of subcutaneous fatty tissue -
Microcephaly -
Recurrent infections -
Short stature -
Small for gestational age -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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.


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.