Overview
Albright hereditary osteodystrophy (AHO) is a rare genetic disorder characterized by a distinctive constellation of physical features including short stature, obesity, round face, subcutaneous ossifications (calcium deposits under the skin), brachydactyly (shortening of the fingers and toes, particularly the fourth and fifth metacarpals), and often mild intellectual disability. The condition is caused by heterozygous loss-of-function mutations in the GNAS gene, which encodes the alpha subunit of the stimulatory G protein (Gsα), a critical signaling molecule involved in the response of many tissues to hormones. AHO can present in two distinct clinical forms depending on the parental origin of the mutation. When the GNAS mutation is inherited from the mother, patients develop pseudohypoparathyroidism type 1A (PHP1A), which includes the AHO phenotype along with multi-hormone resistance — most notably resistance to parathyroid hormone (PTH), leading to hypocalcemia and hyperphosphatemia, as well as resistance to thyroid-stimulating hormone (TSH) and gonadotropins. When the same mutation is inherited from the father, patients develop pseudopseudohypoparathyroidism (PPHP), in which the AHO physical features are present but without hormone resistance. This parent-of-origin effect is due to tissue-specific genomic imprinting of the GNAS locus. Treatment of AHO is primarily supportive and directed at managing specific manifestations. For patients with PHP1A, calcium and active vitamin D supplementation are essential to correct hypocalcemia and suppress elevated PTH levels. Thyroid hormone replacement is used for TSH resistance. Growth hormone therapy may be considered for short stature. Regular monitoring of calcium, phosphorus, PTH, and thyroid function is important. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern and the significant impact of parental imprinting on clinical expression.
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
FDA & Trial Timeline
3 eventsVanderbilt University Medical Center — PHASE2
Vanderbilt University Medical Center — PHASE2
Connecticut Children's Medical Center — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Albright hereditary osteodystrophy.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Albright hereditary osteodystrophy.
Community
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Start the conversation →Latest news about Albright hereditary osteodystrophy
Disease timeline:
New recruiting trial: Effect of Theophylline in Pseudohypoparathyroidism
A new clinical trial is recruiting patients for Albright hereditary osteodystrophy
New recruiting trial: Albright Hereditary Osteodystrophy: Natural History, Growth, and Cognitive/Behavioral Assessments
A new clinical trial is recruiting patients for Albright hereditary osteodystrophy
Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Albright hereditary osteodystrophy
What is Albright hereditary osteodystrophy?
Albright hereditary osteodystrophy (AHO) is a rare genetic disorder characterized by a distinctive constellation of physical features including short stature, obesity, round face, subcutaneous ossifications (calcium deposits under the skin), brachydactyly (shortening of the fingers and toes, particularly the fourth and fifth metacarpals), and often mild intellectual disability. The condition is caused by heterozygous loss-of-function mutations in the GNAS gene, which encodes the alpha subunit of the stimulatory G protein (Gsα), a critical signaling molecule involved in the response of many tis
How is Albright hereditary osteodystrophy inherited?
Albright hereditary osteodystrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Albright hereditary osteodystrophy typically begin?
Typical onset of Albright hereditary osteodystrophy is childhood. Age of onset can vary across affected individuals.
Are there clinical trials for Albright hereditary osteodystrophy?
Yes — 3 recruiting clinical trials are currently listed for Albright hereditary osteodystrophy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Albright hereditary osteodystrophy?
21 specialists and care centers treating Albright hereditary osteodystrophy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.