What Is Hypophosphatasia?
6. What Are the Symptoms of Infantile Hypophosphatasia?
The infantile form typically manifests within the first six months of someone’s lifetime, though it is possible for the mineralization to improve at some point early on in childhood. This form of the disease can result in lifelong deformities and shorter stature. Some infants may have poor feeding habits, weakness, constipation or vomiting. It is not uncommon for babies with infantile hypophosphatasia to have diminished muscle tone, tender bones, bone pain, fever and breathing difficulty that could lead to respiratory failure. One of the respiratory complications that can arise is pneumonia, which is more likely due to rib fractures and chest deformities.
Joint problems such as enlarged ankles and wrists can also happen. Abnormalities in the growth plates can cause bowed legs, which is a syndrome known as rickets. Infants who suffer from intracranial hypertension as a result of infantile hypophosphatasia can experience bulging eyes and swelling of the optic disk. This results from increased pressure of cerebrospinal fluid in the skull caused by early fusing of the skull bones. In addition, these infants typically grow and gain weight at an abnormal rate.
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