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GTR Home > Conditions/Phenotypes > Ring chromosome 14

Ring chromosome 14

Synonyms
Ring chromosome 14 syndrome
Modes of inheritance
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Ring chromosome 14 syndrome is a condition characterized by seizures and intellectual disability. Recurrent seizures (epilepsy) develop in infancy or early childhood. In many cases, the seizures are resistant to treatment with anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have some degree of intellectual disability or learning problems. Development may be delayed, particularly the development of speech and of motor skills such as sitting, standing, and walking.\n\nAdditional features of ring chromosome 14 syndrome can include slow growth and short stature, a small head (microcephaly), puffy hands and/or feet caused by a buildup of fluid (lymphedema), and subtle differences in facial features. Some affected individuals have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Abnormalities of the retina, the specialized tissue at the back of the eye that detects light and color, have also been reported in some people with this condition. These changes typically do not affect vision. Major birth defects are rarely seen with ring chromosome 14 syndrome. [from MedlinePlus Genetics]

Available tests

8 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (8 available)

Cytogenetics Tests

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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