Overview
Pseudohypoparathyroidism with Albright hereditary osteodystrophy (also called PHP with AHO) is a rare genetic condition that affects how your body responds to parathyroid hormone (PTH). Normally, PTH helps control calcium and phosphorus levels in your blood. In this condition, the body's tissues do not respond properly to PTH even though the parathyroid glands are producing it. This leads to low calcium and high phosphorus levels in the blood, which can cause a range of symptoms. People with this condition also have a set of physical features known as Albright hereditary osteodystrophy (AHO). These features include short stature, a round face, short fingers and toes (especially the fourth and fifth metacarpals), and sometimes small areas of bone forming under the skin (subcutaneous ossifications). Some individuals may also experience mild to moderate intellectual disability or learning difficulties. The most common form is caused by changes in the GNAS gene. Treatment focuses on correcting calcium and phosphorus imbalances using calcium supplements and active vitamin D (calcitriol). With proper management, many symptoms can be well controlled, though lifelong monitoring is needed. Early diagnosis and treatment are important to prevent complications such as seizures from low calcium levels and to support healthy growth and development in children.
Key symptoms:
Low calcium levels in the blood (hypocalcemia)High phosphorus levels in the bloodShort statureRound faceShort fingers and toes, especially the fourth and fifthObesity or tendency to gain weight easilySmall areas of bone forming under the skinNumbness or tingling in hands and feetMuscle cramps or spasmsSeizures due to low calciumMild to moderate intellectual disability or learning difficultiesDental problems including delayed tooth eruptionDry, coarse skinFatigue
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Pseudohypoparathyroidism with Albright hereditary osteodystrophy.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Pseudohypoparathyroidism with Albright hereditary osteodystrophy.
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Questions for your doctor
Bring these to your next appointment
- Q1.What type of pseudohypoparathyroidism does my child (or I) have, and what does that mean for treatment?,How often should calcium and phosphorus levels be checked?,What are the warning signs that calcium levels are too low or too high?,Should other family members be tested for this condition?,Is growth hormone therapy appropriate in this case?,What educational or developmental support services should we look into?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Pseudohypoparathyroidism with Albright hereditary osteodystrophy
What is Pseudohypoparathyroidism with Albright hereditary osteodystrophy?
Pseudohypoparathyroidism with Albright hereditary osteodystrophy (also called PHP with AHO) is a rare genetic condition that affects how your body responds to parathyroid hormone (PTH). Normally, PTH helps control calcium and phosphorus levels in your blood. In this condition, the body's tissues do not respond properly to PTH even though the parathyroid glands are producing it. This leads to low calcium and high phosphorus levels in the blood, which can cause a range of symptoms. People with this condition also have a set of physical features known as Albright hereditary osteodystrophy (AHO).
How is Pseudohypoparathyroidism with Albright hereditary osteodystrophy inherited?
Pseudohypoparathyroidism with Albright hereditary osteodystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pseudohypoparathyroidism with Albright hereditary osteodystrophy typically begin?
Typical onset of Pseudohypoparathyroidism with Albright hereditary osteodystrophy is childhood. Age of onset can vary across affected individuals.
Which specialists treat Pseudohypoparathyroidism with Albright hereditary osteodystrophy?
4 specialists and care centers treating Pseudohypoparathyroidism with Albright hereditary osteodystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.