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Chromosome 8q24.3 deletion syndrome is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on chromosome 8 at a location designated q24.3. The signs and symptoms vary but may include slow growth, developmental delay, characteristic facial features, and skeletal abnormalities. Some affected people may also have coloboma, kidney abnormalities, and heart defects. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.
Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Global developmental delay|
|Abnormal thrombocyte morphology|
|Abnormal oral cavity morphology|
|Abnormality of circulating adrenocorticotropin level|
|Aplasia/Hypoplasia of the 5th finger|
|Abnormal nasolacrimal system morphology|
|Delayed eruption of teeth|
|Abnormality of the nares|
|Prominent nasolabial fold|
|Generalized bone demineralization|
|Chronic rhinitis due to narrow nasal airway|
|Abnormality of the ear|
|Fetal akinesia sequence|
|Thin upper lip vermilion|
|Abnormality of the clivus|
|Abnormal cardiac septum morphology|
|Autosomal dominant inheritance|
|Short 5th finger|
|Wide nasal bridge|
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