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
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.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of the dentition||
Dental abnormality[ more ]
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
|Abnormality of the ribs||
|Bowing of the long bones||
Bowed long bones
Bowing of long bones[ more ]
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy[ more ]
|Feeding difficulties in infancy||0008872|
Low chest circumference
Narrow shoulders[ more ]
Decreased body height
Small stature[ more ]
|Skin dimple over apex of long bone angulation||0001024|
|30%-79% of people have these symptoms|
Low number of red blood cells or hemoglobin
High blood calcium levels
Increased calcium in blood[ more ]
Low or weak muscle tone
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
In the prenatal context, the differential diagnosis includes osteogenesis imperfecta, campomelic dysplasia, hypophosphatemic rickets and achondrogenesis. The main differential diagnosis in other forms is osteogenesis imperfecta.
Visit the Orphanet disease page for more information.
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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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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