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Other metabolic disorders of bone - hypermineralization of the bone, etc.


Types and clinical signs

These are skeletal diseases that are associated with excess calcium and other minerals in the bone, and other metabolic disorders of bone. They are relatively rare. They differ in the type of disorder, the part of the bone most affected, the distribution of functional disturbance in the body, inheritance pattern, biochemical changes in the bone, the genes responsible, etc.

Concerning all the sections below the following must be remembered:

A precise diagnosis is important, and a diagnosis made in the past may not always have been made according to today-s standards and methods and is not always accurate by today-s standards. Because of this, the diagnosis must always be confirmed in a genetic institute by examining the patient, or at least by looking at the clinical picture, photographs, X-rays and other data.

Even though we know a lot about the inheritance patterns, the risk of recurrence, the mechanism of the manifestations of the disease, etc., most of these diseases have exceptions, and each case/family must be examined individually in a genetic institute. The inheritance pattern, risk of recurrence, genetic testing, diagnosis and preventive measures must be determined separately for each type.

Inheritance pattern

Depends on the specific type and the distribution of cases in the family.

Penetrance

Depends on the specific type.

Associated features that can be demonstrated in tests performed during pregnancy

This depends on the age of onset and on the manifestation of short stature in the affected individuals in the family.

The condition cannot be detected by ultrasound examination in pregnancy in those cases where the onset of the bone shortening is late, i.e. after birth or after the age of two years.

In all these cases it is important to refer the couple for genetic counseling, to which they should bring all data, including the results of other tests performed during the pregnancy such as alpha-fetoprotein, nuchal translucency, etc.

What is the risk of recurrence in a subsequent pregnancy?

This depends on the specific type of disease, the inheritance pattern, and the relationship to the patient, in accordance with the laws of inheritance.

The risk for more distant relatives depends on the number of affected individuals in the family, the degree of relationship between the relatives and the affected individuals, consanguinity between the parents, if present, etc. This risk is established within genetic counseling.

Molecular genetic information

The gene for the disease

Depends on the exact type.

Genetic testing

Diagnostic testing

Depends on the exact type.

Carrier testing

In families in whom the mutation in the gene responsible for the disease has been found, other relatives may be tested both for signs of the disease itself and for carrier status. There are no carrier tests for the healthy population.

Fetal testing

Usually as for diagnostic testing.
 
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