pseudopseudohypoparathyroidism

A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in

A pseudohypoparathyroidism characterized by a lack of resistance to parathyroid hormone or other hormones along with the constellation of clinical features referred to as Albright hereditary osteodystrophy and that has_material_basis_in a mutation resulting in loss of function of the Gs-alpha isoform of the GNAS gene on the paternal allele. This results in expression of the Gs-alpha protein only from the maternal allele.

Signs and symptoms

• Delayed eruption of teeth
• Brachydactyly
• Short stature
• Full cheeks
• Short neck
• Short metacarpal
• Depressed nasal bridge
• Short metatarsal
• Osteoporosis
• Cognitive impairment

Also known as: Normocalcemic pseudohypoparathyroidism; PPHP