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All mutations of the above gene are inherited by an autosomal dominant mechanism, but in the vast majority of cases they are spontaneous and are not detected in the parents or relatives of the patient. It has been noted that in almost all persons with hypochondroplasia, the age of the fathers exceeds the average, which may indicate the germinal genesis of FGFR3 gene mutations. Almost always in the first years of a baby's life, the disease does not manifest itself in any way. At birth, such children do not h

The first signs of growth retardation occur in a baby at the age of 3 or 4 years. At this age, the baby becomes noticeable insignificant disproportionality of the body. Violation of intellectual development in hypochondroplasia is actually never observed. In almost all cases, people around do not even immediately reveal any unusual proportions in patients, as a result of which they simply look like low, thick-set people. The shape of the skull and facial features with hypochondroplasia are often unremarkabl

In patients, valgus curvature is not detectedfractured bones with hypochondroplasia, but with all this, similar deformities of the lower leg are likely. Approximately in half of the cases, patients develop curvature of the lumbar spine. Due to the fact that all these phenomena are similar to symptoms (Symptom from Greek - a case, a coincidence, a sign - one single symptom, a frequent manifestation of a disease, a pathological condition or a violation of any life process) of achondroplasia, only the least pr

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