HELIX Syndrome
Patient Information
Characteristics
Background and History
This is a recently described syndrome with reduced tear and sweat production with kidney malfunction.
Clinical Correlations
Patients have reduced heat tolerance and may experience exercise induced muscle cramps and weakness with heart palpitations beginning in the first decade of life. They may also form kidney stones in the pre-adult years. They may complain of dry eyes and dry mouth and the abnormally dry skin often has a fine white scaliness. The dental coat of the teeth is defective. Examination of the blood reveals abnormal levels of electrolytes. Evidence of mild kidney failure has been reported
Genetics
Inheritance
This condition is the result of mutations in both members of a specific pair of genes. Children of clinically normal parents who carry one mutation are at a 25% risk of developing this disorder.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
Diagnosis and Prognosis
Signs and symptoms of this condition may not be evident at birth and most patients develop symptoms in the first two decades of life. Pediatricians are the most likely to make the diagnosis but ophthalmologists should evaluate the eyes for damage resulting from dryness and treat with moisturizing solutions. Kidney specialists should be involved as well. There is no known impact on longevity.
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