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Genetic and Rare Diseases Information Center (GARD)

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Albright's hereditary osteodystrophy

Other Names for this Disease
  • AHO
  • Albright hereditary osteodystrophy
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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 that resembles hypoparathyroidism (lowered levels of parathyroid hormone), but is caused by a lack of response to parathyroid hormone rather than having too little of the hormone itself. This condition is very similar to hypoparathyroidism, with low calcium levels and high phosphate levels in the blood. This results in the characteristic symptoms which are generally first seen in childhood. There are two different types of pseudohypoparathyroidism, both of which are caused by abnormal 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: 10/7/2011

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 symptoms may be associated with Albright's hereditary osteodystrophy?

Albright's hereditary osteodystophy is characterized by short stature, obesity, round face, short neck, brachydactyly (short hand bones), subcutaneous (under the skin) calcification, and dimples on affected knuckles.[2][1] Some degree of developmental delay is common, but generally mild.[2] Hypocalcemia (low levels of calcium in the blood) may cause sensations of numbness, seizures, cataracts, dental abnormalities, and tetany (a collection of symptoms including muscle twitches and hand and foot spasms).[1] 
Last updated: 4/6/2009

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 consists of calcium and vitamin D supplements, to maintain high calcium levels without the help of parathyroid hormone. In some individuals with high serum phosphate levels, a low-phosphorus diet or phosphate binders (such as calcium carbonate, calcium acetate, or sevelamer HCl) may be necessary.[1]
Last updated: 4/6/2009