Signs Of Hypophosphatasia
Hypophosphatasia is a rare, inherited disease most commonly found in Caucasian populations. It affects the development of teeth and bones by interrupting the mineralization process. This process involves calcium and phosphorous absorbing into newly growing bones and is essential for proper development. There are different degrees of hypophosphatasia, ranging in severity from premature loss of baby teeth to death. The most devastating cases happen in infancy. Children with the disease may have bowed legs, an irregular skull shape, and are typically shorter. Reveal more of the warning signs of hypophosphatasia now.
Skeletal Abnormalities Similar To Rickets
Hypophosphatasia causes similar skeletal deformities as seen with rickets, which is a disease caused by a lack of vitamin D, and affects developing bones in infants and small children. These skeletal deformities include lumps in the ribcage, a protrusion of the sternum, and pelvic deformities. A common deformity is an irregularly shaped skull; resulting in pressure on the brain. Spine deformities include scoliosis, an irregular curve to the spine, and kyphosis, a hunched back. Pain and tenderness can be felt in the spine, legs, arms, and pelvis. Muscles are usually not as well developed and are prone to cramping. Individuals suffering from this disease tend to be shorter and grow to less than five feet tall.
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Short Limbs
Short limbs are a direct result of weakened bones and stunted bone growth. Bones require mineralization to increase in size and remain strong. Without it, bones are unable to grow to their full potential. Because the bones tend to be weaker with hypophosphatasia, fractures are more common. This also hinders bone growth because injured bone is unable to repair itself properly without mineralization. This disease is inherited in both autosomal recessive and autosomal dominant fashion. Therefore, the shorter appendages can be detected on a sonogram before birth. Should this occur, enzyme therapy can be started to lessen the effects of hypophosphatasia.
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Failure To Gain Weight In Infancy
Failure to gain weight in infancy is also known as failure to thrive. Bone growth is slowed causing the infant to remain small. Since bones are unable to absorb calcium, there is an overabundance in the blood. This is called hypercalcemia, and it can cause constipation, vomiting, and frustration and distress with feeding in infants. If an infant is unable to feed, they will not intake sufficient nutrients for growth. Likewise, if an infant is unable to feed and is vomiting, they may lose weight. Either situation contributes to insubstantial weight gain and can have a devastating impact on the infant.
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Early Loss Of Baby Teeth
The early loss of baby teeth is a sign of a less severe form of hypophosphatasia. In fact, it might be the first noticeable sign of the disease in young children. Normally, baby teeth fall out slowly when children are between six and twelve years old. A child with hypophosphatasia will have lost all baby teeth, including the root, by five years old. This is often caused by the weakening of the ligaments that hold them in place, and by their fragile bones. Early loss of the primary teeth can be troublesome for the placement of the permanent teeth. When primary teeth are lost gradually and individually, the adult teeth behind them have a guide to follow into their permanent place. Without this guide, adult teeth can grow into any open spaces.
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Osteomalacia
Osteomalacia is the softening of bones and is one of the major signs of hypophosphatasia in adults. It is caused by the inadequate absorption of vitamin D, phosphate, and calcium in the bones. Consequently, they become soft, which can lead to broken bones, muscle weakness, fatigue, stiffness, and pain. It may be painful for a person to move from a seated position or to climb and descend stairs. They may have difficulty performing daily chores and activities. Individuals suffering from this may benefit from wearing braces to support the weakened bones. Adding vitamin D, calcium, and phosphate supplements will likely not help and can aggravate the condition.