49 XXXXX syndrome, is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. Sometimes people have been misdiagnosed with Downs syndrome when the actually have 49 XXXXX syndrome because of the similarities in symptoms between the two syndromes. 49 XXXXX syndrome can cause birth defects such as short stature, mental retardation or craniofacial (bones of the skull and face) abnormalities, as well as hyperextension of the elbows, deformities of the feet and cardiac defects. Although there is currently no cure for 49 XXXXX syndrome, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by 49 XXXXX syndrome.