Features present in 15q24 microdeletion syndrome may also be present in other diseases, and when thinking of a diagnosis, these disorders may also be considered in affected individuals. For example, clinical features such as microcephaly, absent speech, growth delay, seizures, and a generally happy mood seen in 15q24 may also be seen in Angelman syndrome. Diaphragmatic hernia, often seen in 15q24 microdeletion syndrome, is also a prominent feature of Fryns syndrome and therefore should be considered as a potential diagnosis as well. Developmental delay and dysmorphic facial features is also common in deletion 22q11.2 (velocardiofacial syndrome). Clinical features of 15q24 microdeletion syndrome that may also be seen with Prader-Willi syndrome include severe infant hypotonia, seizures, global developmental delay, strabismus (where both eyes do not line up in the same direction, so they do not look at the same object at the same time) and cryptorchidism (where the testes fail to descend into the scrotum).
Other syndromes which share similar features to 15q24 include microphthalmia/Matthew Wood syndrome, which involves intellectual disability with eye abnormalities including microphthalmia and/or anophthalmia, diaphragmatic hernia, pulmonary hypoplasia, cardiac defects, and short stature. Congenital disorder of glycosylation, type Ib (MPI-CDG) includes features such as chronic diarrhea and failure to thrive, which can be present in 15q24. Lastly, several individuals with a duplication of the 1.2 Mb critical region, normally deleted in 15q24 microdeletion syndrome, share similar features.
Other Questions About 15q24 deletion syndrome
- Will my child with 15q24 microdeletion syndrome have similarly affected children?
- Why is 15q24 microdeletion syndrome caused by a microdeletion?
- Who in my family should be tested for 15q24 microdeletion syndrome?
- What specialist doctors should I see with 15q24 microdeletion syndrome?
- What other diseases look like 15q24 microdeletion syndrome?
