Orphanet: Search a disease
x

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Intractable diarrhea-choanal atresia-eye anomalies syndrome

Disease definition

Intractable diarrhea-choanal atresia-eye anomalies syndrome is characterised by the association of intractable diarrhoea of infancy with choanal atresia. Short stature, a prominent and broad nasal bridge, micrognathia, single palmar creases, chronic corneal inflammation, cytopenia, and abnormal hair texture were also reported. So far, the syndrome has been described in three children from the same family. The absence of intellectual deficit and immune deficiency allow this syndrome to be distinguished from other forms of intractable diarrhoea of infancy described previously.

ORPHA:137622

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.