Living with Pseudopseudohypoparathyroidism
An inherited condition with short stature, a round face, and short hand bones, without hormone resistance.
Understanding Pseudopseudohypoparathyroidism
It causes soft tissues and joints to harden and affects how bones form. This can lead to bone, joint, and nerve damage and lasting pain. About 10% of people also have a learning disability. It is related to pseudohypoparathyroidism type 1A, but people with PPHP don't resist parathyroid hormone, and obesity is less prominent or absent.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Round face
- Short fingers and toes (brachydactyly)
- Short hand and foot bones
- Bone forming in soft tissue (ectopic ossification)
- Learning disability in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in GNAS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
HypoPARAthyroidism Association, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: HypoPARAthyroidism Association, Inc.
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with HypoPARAthyroidism Association, Inc. and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
This condition is caused by changes in the GNAS gene. It is autosomal dominant and usually inherited from the father. Inheriting the same change from the mother leads to pseudohypoparathyroidism type 1A instead.
Also known as: aho-pphp syndrome; albright hereditary osteodystrophy with multiple hormone resistance; albright hereditary osteodystrophy without multiple hormone resistance; albright hereditary osteodystrophy-pphp syndrome; normocalcemic pseudohypoparathyroidism; normocalcemic pseudohypoparathyroidism (disorder) [ambiguous]
Patient organizations
- HypoPARAthyroidism Association, Inc.Pseudopseudohypoparathyroidism · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pseudopseudohypoparathyroidism.
Explore research for Pseudopseudohypoparathyroidism
Explore actively recruiting Pseudopseudohypoparathyroidism studies with HealthSpark.
Find actively recruiting studies for Pseudopseudohypoparathyroidism with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Pseudopseudohypoparathyroidism studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Pseudopseudohypoparathyroidism
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Pseudopseudohypoparathyroidism experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.