Albright's hereditary osteodystrophy

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

Albright hereditary osteodystrophy (or Martin-Albright syndrome) is an autosomal dominant form of osteodystrophy, and is otherwise known as Pseudohypoparathyroidism type 1a. 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 faces.

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.

External links

Laboratory for Molecular Diagnostics, Center for Nephrology and Metabolic Disorders Dr Mato Nagel

• synd/1654 at Who Named It
• synd/164 at Who Named It
• DermAtlas -1818850366