Albright's hereditary osteodystrophy

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Albright's hereditary osteodystrophy Classification and external resources
ICD-10	E20.1
ICD-9	275.49
OMIM	103580
DiseasesDB	10835
MeSH	D005359

Albright hereditary osteodystrophy (or Martin-Albright syndrome) is form of osteodystrophy, otherwise known as Pseudohypoparathyroidism type 1a. Due to genetic imprinting, the disease occurs only when a mother with mild clinical symptoms or a de novo mutation of the maternal allele passes it to her offspring. The syndrome bears the name of Fuller Albright, who was also responsible for characterizing Albright syndrome as well as a number of other bone disorders.

The disorder is characterized by a lack of renal responsiveness to parathyroid hormone, resulting in low serum calcium, high serum phosphate, and appropriately high serum parathyroid hormone. Patients with Albright hereditary osteodystrophy have short stature, characteristically shortened fourth and fifth metacarpals, and rounded facies.

Albright hereditary osteodystrophy is commonly known as Pseudohypoparathyroidism because the kidney responds as if parathyroid hormone were absent. In fact, blood levels of parathyroid hormone are elevated in Pseudohypoparathyroidism due to the continued hypocalcemia.

[edit] See also

• Brachydactyly mental retardation syndrome, a similar disease.

[edit] External links

• Laboratory for Molecular Diagnostics, Center for Nephrology and Metabolic Disorders
• synd/1654 at Who Named It
• synd/164 at Who Named It
• DermAtlas -1818850366