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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Hypophosphatasia


Other Names for this Disease

  • Hypophosphatasia mild
  • Phosphoethanol-aminuria
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Symptoms

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What are the symptoms of hypophosphatasia?

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.[1]

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.[1]

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.[1]

Last updated: 7/17/2013

The Human Phenotype Ontology provides the following list of signs and symptoms for Hypophosphatasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

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%
Craniosynostosis 90%
Emphysema 90%
Narrow chest 90%
Sacrococcygeal pilonidal abnormality 90%
Short stature 90%
Anemia 50%
Behavioral abnormality 50%
Hypercalcemia 50%
Muscular hypotonia 50%
Recurrent fractures 50%
Respiratory insufficiency 50%
Seizures 50%
Abnormality of the foot -
Autosomal dominant inheritance -
Autosomal recessive inheritance -
Carious teeth -
Chondrocalcinosis -
Low alkaline phosphatase -
Osteomalacia -
Pathologic fracture -
Premature loss of permanent teeth -
Premature loss of primary teeth -
Recurrent fractures -
Rickets -

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Hypophosphatasia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition=hypophosphatasia. Accessed 2/22/2008.


Other Names for this Disease
  • Hypophosphatasia mild
  • Phosphoethanol-aminuria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.