pseudohypoparathyroidism type 1A

A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mu

A pseudohypoparathyroidism that characterized by shortening and widening of long bones located_in the hand or located_in the foot along with short stature, obesity, rounded face, and lack of responsiveness to parathyroid hormone that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the maternal allele. This results in expression of the Gs-alpha protein only from the paternal allele.

Signs and symptoms

• Brachydactyly
• Short stature
• Subcutaneous ossification
• Pseudohypoparathyroidism
• Low urinary cyclic AMP response to PTH administration
• Delayed eruption of teeth
• Thickened calvaria
• Seizure
• Hypocalcemic tetany
• Short metacarpal

Also known as: Albright hereditary osteodystrophy; Albright's hereditary osteodystrophy; PHP Ia