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Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

MONDO:0012519

Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.

Also known as: 16p13.3 deletion syndrome, Rsts deletion syndrome, Rubinstein-Taybi deletion syndrome, chromosome 16p13.3 deletion syndrome, chromosome 16p13.3 deletion syndrome, proximal

70 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Nervous system disorder (217) Musculoskeletal system disorder (196) Hereditary disease (172) Neurodevelopmental disorder (125) Intellectual disability (115) Bone disorder (47) Syndromic disease (24) Human disease (14) Chromosomal disorder (12)
Trials to join now! 31 Not yet recruiting 11 Not yet finished but already full! 8 Completed 19 Terminated 1
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