2012 marks the second annual 48 XXYY Syndrome Awareness Day. Join us by learning more about this rare genetic disorder, raising awareness and in participating in our 48 Days in the Life.
48 XXYY Syndrome affects between 1 in 14,000 and 1 in 17,000 males, yet most of these individuals are not diagnosed or misdiagnosed. Only approximately 250 families worldwide belong to the XXYY Project's family network, which is much less than the 8906-10,814 males while are likely affected in the United States alone.
This syndrome is rare and only in 2008, thanks to Dr. Tartaglia and the XXYY Project was any research on a group of males with 48 XXYY published. Previously, only single case studies and research on prison populations gave any insight into this syndrome. More research is needed.
The most common symptoms and characteristics of 48 XXYY Syndrome are:
Speech impairment or delay
Tall, considering family history
Behavior outbursts & mood swings
Autism, autism spectrum, PDD-NOS
Clinodactyly (Curved-in pinky fingers)
Low muscle tone
Delayed sexual development
Low or no testosterone
Intention tremors (hand)
Low muscle tone
Sensory Processing Disorder
Not all males with 48 XXYY Syndrome have all these symptoms, and more information and research on treatments for these symptoms is needed. Families who struggle with incomplete diagnoses need to know the full picture in order to help their sons reach their full potential.
Parents, doctors, dentists, speech therapists, occupational therapists and teachers should be aware of the varied symptoms of this syndrome, and consider requesting a karyotype to either rule out or confirm a diagnosis of 48 XXYY.
With full awareness of XXYY Syndrome and its symptoms, families and individuals affected by 48 XXYY Syndrome are able to deal with this complex syndrome but understanding from doctors, dentists, speech therapists, occupational therapists and teachers is needed to improve the quality of life for those affected.