Distal 18q-

Children and adults with distal 18q- are often small for their age.

Diagnosis of distal 18q- is usually made via a blood sample.

Distal 18q- causes a wide range of medical and developmental concerns.

The intellectual development of individuals with distal 18q- vary quite widely.

As mentioned above, males with distal 18q- may have cryptorchidism.

Hypothyroidism has been reported in some people with distal 18q-.

Hernias have also been reported in individuals with distal 18q-.

Adaptive skills may also be delayed in people with distal 18q-.

People with distal 18q- frequently have conductive and/or sensorineural hearing loss.

Infants and toddlers with distal 18q- may have problems with reflux.

It has been well-documented that many people with distal 18q- have an abnormal response to growth hormone stimulation.

Microcephaly is also common in people with distal 18q-.

Cleft lip and palate are relatively common in people with distal 18q-.

As mentioned above, distal 18q- is associated with an increased incidence of clubfoot and rocker bottom feet.

People with distal 18q- frequently have overlapping toes.

Dysmyelination is a common finding in people with distal 18q-, present in approximately 95%.

Additionally, vesicouretereral reflux has been diagnosed in several people with distal 18q-.

This is due to the variation in breakpoints reported in individuals with distal 18q-.

Also, there have been a variety of kidney malformations reported in infants with distal 18q-, as noted above.

Boys with distal 18q- may have genital anomalies, the most frequent being cryptorchidism and hypospadias.

At present, treatment for distal 18q- is symptomatic, meaning that the focus is on treating the signs and symptoms of the conditions as they arise.

Strabismus and nystagmus are prevalent in distal 18q-.

Unlike distal 18q-, however, growth hormone deficiency has not been reported in anyone with proximal 18q-.

Several people with distal 18q- have been diagnosed with low IgA levels, resulting in an increased incidence of infections.

To ensure early diagnosis and treatment, it is suggested that people with distal 18q- undergo routine screenings for thyroid, hearing, and vision problems.