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Diseases

Genetic and Rare Diseases Information Center (GARD)

Albright's hereditary osteodystrophy


Other Names for this Disease
  • AHO
  • Albright hereditary osteodystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My children are affected by Albright's hereditary osteodystrophy. Can you tell me more about this condition?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is pseudohypoparathyroidism?

Pseudohypoparathyroidism is a genetic disorder in which the body is unable to respond to parathyroid hormone. Parathyroid hormone helps control calcium, phosphorous, and vitamin D levels in the bones and blood. Hypoparathyroidism is a similar condition in which the body does not make enough parathyroid hormone instead of not being able to respond to it (as in pseudohypoparathyroidism).[1]

The symptoms of these two conditions are similar and are caused by low calcium levels and high phosphate levels in the blood. This may cause cataracts (clouding of the lens of the eye), dental problems, numbness, seizures, or tetany (muscle twitches and hand and foot spasms). These symptoms are usually first seen in childhood.[1]

There are two different types of pseudohypoparathyroidism, both of which are caused by spelling mistakes (mutations) in certain genes. Type 1 can be further divided into three sub-types.[1] Click on the links below for more information on the various types of pseudohypoparathyroidism.

Pseudohypoparathyroidism type 1A
Pseudohypoparathyroidism type 1B
Pseudohypoparathyroidism type 1C
Pseudohypoparathyroidism type 2
Last updated: 1/5/2016

What is Albright's hereditary osteodystrophy?

Albright's hereditary osteodystrophy is a syndrome with a wide range of manifestations including short stature, obesity, round face, subcutaneous (under the skin) ossifications (gradual replacement of cartilage by bone), and characteristic shortening and widening of the bones in the hands and feet (brachydactyly). The features of Albright's hereditary osteodystrophy are associated with resistance to parathyroid hormone (pseudohypoparathyroidism) and to other hormones (thyroid-stimulation hormone, in particular). This autosomal dominantly inherited condition is caused by mutations in the GNAS gene.[2] Treatment consists of calcium and vitamin D supplements.[1]
Last updated: 10/17/2012

What are the signs and symptoms of Albright's hereditary osteodystrophy?

Albright's hereditary osteodystophy is a genetic disorder that can cause many different symptoms. People with this disorder usually have short stature, obesity, round face, short bones in the hands and feet (brachydactyly), subcutaneous (under the skin) ossifications (replacement of cartilage by bone), and dimples on affected knuckles.[2][1][3] Some people may have mild developmental delay.[2]

People with this disorder usually are resistant to parathyroid hormone (which is a condition called pseudohypoparathyroidism). This causes low levels of calcium in the bones and the blood. Low levels of calcium in the blood (hypocalcemia) can cause numbness, seizures, cataracts (cloudy lens in the eye), dental issues, and tetany (muscle twitches and hand and foot spasms).[1][3]
Last updated: 1/5/2016

What causes Albright's hereditary osteodystrophy?

Albright's hereditary osteodystophy is caused by mutations in the GNAS gene. Albright's hereditary osteodystrophy is transmitted as an autosomal dominant trait. The hormone resistance associated with Albright's hereditary osteodystrophy, in particular resistance to parathyroid hormone, depends on whether the mutated allele comes from the father or the mother. Within a family, some patients have isolated features of Albright's hereditary osteodystrophy without hormone resistance (called pseudopseudohypoparathyroidism) and some show the complete clinical picture. This is due to parental imprinting of the GNAS gene. Thus, in individuals with a mutated maternal GNAS allele, the disease is fully expressed while in individuals with a mutated paternal allele the disease is partially expressed and hormone resistance is not present.[2]
Last updated: 10/17/2012

How might Albright's hereditary osteodystrophy be treated?

Treatment with calcium and vitamin D supplements help maintain normal levels of calcium in the blood. If there are high levels of phosphate in the blood, it may be recommended to eat a low-phosphorous diet or take medications called phosphate binders to help lower the levels of phosphate. Examples of phosphate binders include calcium carbonate, calcium acetate, and sevelamer HCl.[1]
Last updated: 1/5/2016

References
Other Names for this Disease
  • AHO
  • Albright hereditary osteodystrophy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.