Clinical presentation is variable; some patients may be affected minimally or moderately, while others may have severe manifestations. Age of diagnosis may be from birth to adulthood, due to features becoming apparent over time. Common clinical features include brachydactyly, lack of pubertal growth spurt, lack of widening of lumbar spine, ectopic ossifications of soft-tissues, round face, and short stature. Impaired cognition is rare.
Currently, there are no specific treatments.
PPHP is not life-threatening; however, patient's quality of life may be affected when severe ectopic ossification is present.
For more information, see OMIM.
E20.1 – Pseudohypoparathyroidism
237659007 – Pseudopseudohypoparathyroidism