Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


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

Ring chromosome 14 syndrome

Disease definition

Ring chromosome 14 syndrome is characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears.


  • Synonym(s):
    • Ring 14
    • Ring chromosome 14
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Childhood
  • ICD-10: Q93.2
  • OMIM: 616606
  • UMLS: C2930916
  • MeSH: C535487
  • GARD: 6072
  • MedDRA: -

Detailed information


Additional information

Specialised Social Services

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.