The signs and symptoms of hypophosphatasia vary widely and can appear anywhere from before birth to adulthood. The most severe forms of the disorder tend to occur before birth and in early infancy. Hypophosphatasia weakens and softens the bones, causing skeletal abnormalities similar to another childhood bone disorder called rickets. Affected infants are born with short limbs, an abnormally shaped chest, and soft skull bones. Additional complications in infancy include poor feeding and a failure to gain weight, respiratory problems, and high levels of calcium in the blood (hypercalcemia), which can lead to recurrent vomiting and kidney problems. These complications are life-threatening in some cases.
The forms of hypophosphatasia that appear in childhood or adulthood are typically less severe than those that appear in infancy. Early loss of primary (baby) teeth is one of the first signs of the condition in children. Affected children may have short stature with bowed legs or knock knees, enlarged wrist and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia are characterized by a softening of the bones known as osteomalacia. In adults, recurrent fractures in the foot and thigh bones can lead to chronic pain. Affected adults may lose their secondary (adult) teeth prematurely and are at increased risk for joint pain and inflammation.
The mildest form of this condition, called odontohypophosphatasia, only affects the teeth. People with this disorder typically experience abnormal tooth development and premature tooth loss, but do not have the skeletal abnormalities seen in other forms of hypophosphatasia.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the metaphyses||90%|
|Abnormality of the ribs||90%|
|Abnormality of the teeth||90%|
|Bowing of the long bones||90%|
|Sacrococcygeal pilonidal abnormality||90%|
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Could an individual with odontohypophosphatasia give birth to a child with a more severe form of hypophosphatasia, or can they only pass on the mild form? See answer
My daughter has hypophosphatasia. She will soon be 7 years-old and has already lost eleven of her first teeth. Two of her adult teeth have come in. Will she loose these too? Can hypophosphatasia cause the early loss of adult teeth? See answer
I have hypophosphatasia and because of this condition, my kidneys do not fully function. I am also developing severe osteoporosis. Is there treatment for hypophosphatasia that will also increase my bone density without causing additional kidney problems? See answer