Kahrizi Syndrome
Patient Information
Characteristics
Background and History
This disorder has been reported only recently in a single family and is named after the physician who identified it. However, the causative gene mutation has been found in a total of 10 families.
Clinical Correlations
In the three affected sibs reported, cataracts were noted in late adolescence. In addition, the colored part of the eye (iris) had a defect giving the pupils a keyhole appearance. Psychomotor development was delayed and none of the children learned to walk or talk. Sometime in late childhood the backbone (spine) became severely curved (kyphosis) and contractures of large joints such as the elbows and knees developed. The facial features are described as ‘coarse’ with prominent lips, a broad nasal bridge, and a prominent nose. Unsteadiness with poor balance may be present.
Genetics
Inheritance
The parents in the family reported were considered to be related to each other which is part of the basis for considering this condition to be inherited as an autosomal recessive disorder. A gene mutation has been identified in the two copies of the children whereas they are only present in single copies of the parents and in unaffected sibs. These parents could expect that each of their children will have a 25% risk of inheriting this condition.
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
There is no treatment for this disorder although it would be expected that physical therapy might be helpful for the contractures. It is unknown if surgery for the cataracts would be helpful. The diagnosis is likely established by a team approach involving pediatricians, neurologists, orthopedists and ophthalmologists. Individuals with this condition have lived into the 5th decade.
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