Pallister-Hall Syndrome: What You Need to Know

Classified in 1980, Pallister-Hall syndrome is extremely rare - there are only about 100 known cases, but that does not mean there are no undiagnosed or misdiagnosed cases. Pallister-Hall syndrome can be diagnosed at birth because patients present with very noticeable physical abnormalities such as extra fingers or toes, short limbs, unusual facial features, or blockage of the anal opening. If any of these are present, the baby has to be checked for hidden and more serious problems such as a non-cancerous malformation in the hypothalamus region of the brain, a laryngotracheal cleft which is an opening between the windpipe and voicebox that can be fatal and problems with the heart, lung, or kidneys.

There is another complication that is not evident at birth and the child has to be closely monitored for any signs of the condition. It is called hypopituitarism, a condition in which the pituitary gland does not produce enough growth hormone.

Pallister-Hall syndrome can affect both boys and girls, but it seems that boys are affected twice as mun, and can be passed on by either the mother or the father when either parent passes on a defective gene and the other parent a normal one. There is a 50-50 chance of the condition being passed on by an affected parent. However, most cases of Pallister-Hall Syndrome are isolated cases, with no family history of the condition. These are believed to by the result of new genetic mutations and they have not yet been able to find the cause, but they do know that it occurs on the GL13 gene.

More specific definitions of the symptoms are short neck, short midface, flat nasal bridge, small tongue, noticeable underdevelopment of one jaw compared to the other, asymmetric skull, cleft palate and other irregularities of the palate, cleft larynx or epiglottis, cysts on the gums, and ears that are small, low-set, and abnormally rotated toward the back of the head, webbing of fingers or toes , abnormally small fingernails or toenails, or no nails at all.

The tumors are not removed unless they cause problems, however they are monitored by using MRI's through out the patient's lifetime. The patient will also have to be checked for cortisol deficiency and be seen by an endocrinologist because of the growth problems, and ear nose and throat specialist, have X rays taken and an ultrasound taken of the kidneys. Hormonal treatment is usually started as soon as possible. The parents and siblings should also be tested to see if they have a case that was never detected.

The prognosis varies widely from case to case. If there is a family history, then the prognosis is about the same and those with a mild form running in the family have a normal life expectancy. In isolated cases, the prognosis depends on the particular symptoms. Unless there is a major problem with the tumor, most patients have an excellent prognosis as long as they are monitored and treated for any of the gland problems.

Sources:

Health Line

Genetics Home Reference