Signs of Pallister Killian syndrome

Description

A rare diseased caused by 2 extra copies of the short arm of chromosome 12. Rather than a hereditary condition this disorder is felt to be a sporadic event. Patients with this disorder have decreased muscle tone, mental retardation and facial abnormalities. Other names for this disorder are Killian/Teschler-Nicola syndrome, Pallister Mosaic syndrome, Tetrasomy 12p, Killian syndrome, and Teschler-Nicola/ Killian syndrome. It is estimated there are about 200 cases of this disorder in the United States.

Symptoms

Babies have decreased muscle tone at birth and the following facial abnormalities: decreased eyebrow hair, sparse eyelashes, prominent forehead, large ears, decreased scalp hair, large space between the eyes, flattening of the nasal bridge, protruding lower lip and a high arched palate. Later in life patients display seizures, mental retardation, hearing loss, cataracts, heart defects and an abnormal communication from the abdominal cavity to the chest (diaphragmatic hernia).

Tests

A history and physical exam will be done. The diagnosis can be made when the baby is still in the uterus via an amniocentesis. A buccal smear or a skin biopsy can be performed to evaluate the chromosomes and establish the diagnosis.

Treatment

There is no cure for this disease and treatment is supportive aimed at treating the symptoms of the disorder. Since the disease is so rare there are support groups that help families with affected children. See www.pkskids.net for more information.