49 XXXXY syndrome

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49 XXXXY syndrome Classification and external resources
ICD-9	758.81
DiseasesDB	32552

49 XXXXY Syndrome is an extremely rare, aneuploidic sex chromosomal abnormality; its frequency is approximately 1 out of 85,000 to 100,000 males.^[1] ^[2]

Pathophysiology

As its name indicates, a person with the syndrome has one Y chromosome and four X chromosomes on the 23^rd pair, thus having 49 chromosomes rather than the normal 46. As is common with Aneuploidy disorders, 49 XXXXY syndrome is often accompanied by mental retardation. It can be considered a form of Klinefelter syndrome, ^[3] or a variant of it.^[1]

It is genetic, but not hereditary. This means that while the genes of the parents cause the syndrome, there is a small chance of more than one child having the syndrome. The probability of inheriting the disease is about 1%.^[4]

The individuals with this syndrome are males, but a female version also exists with similar characteristics as the male version.

Effects

Aneuploidy is often fatal, but in this case there is "X-inactivation" where the effect of the additional gene dosage due to the presence of extra X chromosomes is greatly reduced.^[4]

The mental effects of 49 XXXXY Syndrome vary, much like Down syndrome . Males with the syndrome tend to have impaired speech and behavioral problems.^[5] Those with 49 XXXXY syndrome tend to exhibit infantile secondary sex characteristics with sterility in adulthood and have some skeletal anomalies. Skeletal anomalies include:

genu valgus
pes cavus
fifth finger clinodactyly.

The effects on the males also include:

cleft palate
club feet
respiratory conditions
short or/and broad neck
low birth weight
hyperextensible joints
short stature
narrow shoulders
coarse features in older age
hypertelorism
epicanthal folds
prognathism
gynecomastia (rare)
muscular hypotonia
hypoplastic genitalia
cryptorchidism
congenital heart defects
a very round face in infancy.^[4]

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