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IBIDS syndrome

Orpha number ORPHA453
Synonym(s) Tay syndrome
Trichothiodystrophy type E
Trichothiodystrophy with congenital ichthyosis
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

IBIDS syndrome (or Tay syndrome) is a form of trichothiodystrophy (sulfur-deficient brittle hair) characterized by Ichtyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature. Up to 1991, clinical data on 15 cases with IBIDS had been published. It is an autosomal recessive disorder, caused by a deficiency in sulfur-rich proteins. Diagnosis is based on the clinical signs, hair examination under polarized light, and biochemical evidence of the sulfur-containing amino acid deficiency (in particular cystine) in the hair. Antenatal diagnosis is feasible. There is no specific treatment.

Expert reviewer(s)

  • Dr Carmen CANTISANI
  • Dr Alfredo ROSSI

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Detailed information

Practical genetics
  • EN (2013,pdf)
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