ALBRIGHT HEREDITARY OSTEODYSTROPHY OMIM

Description: ALBRIGHT HEREDITARY OSTEODYSTROPHY; AHO #103580 Alternative titles; PSEUDOHYPOPARATHYROIDISM, TYPE IA, INCLUDED PHP IA, INCLUDED PHP1A, INCLUDED PSEUDOPSEUDOHYPOPARATHYROIDISM, INCLUDED; PPHP, INCLUDED PSEUDOHYPOPARATHYROIDISM, TYPE IC, INCLUDED PHP IC, INCLUDED Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is resistance to parathyroid hormone (PTH; 168450). It is generally classified as types Ia, Ib (603233), Ic, and II (203330) according to different phenotypes and pathogenesis. Albright hereditary osteodystrophy (AHO) is a syndrome characterized by several distinct physical features, including short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation. AHO is often associated with pseudohypoparathyoidism, hypocalcemia, and elevated PTH levels (PHP Ia). Patients with pseudopseudohypoparathyroidism have normal calcium metabolism and PTH levels with isolated AHO (Kinard et al., 1979, Fitch, 1982).