Are there treatments for Acrodysostosis 1 with or without hormone resistance?

Information about treatment is currently limited for this condition.

What complications can arise from Acrodysostosis 1 with or without hormone resistance?

Acrodysostosis 1 with or without hormone resistance can lead to complications related to bone growth and hormone resistance. Individuals may experience issues with their skeletal structure, which can affect mobility and daily activities. Hormonal resistance can also impact various body systems, potentially leading to additional health challenges.

What is the life expectancy for someone with Acrodysostosis 1 with or without hormone resistance?

Currently, there is limited information about the life expectancy of individuals with Acrodysostosis 1 with or without hormone resistance. Since this condition affects bone growth and hormone function, the overall health and management of symptoms can vary widely among individuals. Regular check-ups with healthcare providers can help monitor health and address any concerns.

Are there any specialists recommended for managing Acrodysostosis 1 with or without hormone resistance?

For managing Acrodysostosis 1 with or without hormone resistance, it is beneficial to consult specialists such as geneticists and orthopedic doctors. These professionals can help monitor bone development and address any related health issues. Additionally, an endocrinologist may be helpful for managing hormone resistance and its effects on the body.

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Acrodysostosis 1 with or without hormone resistance (ADOHR) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Short metacarpal, Mild global developmental delay, Elevated circulating parathyroid hormone level, and Midface retrusion and others; and very common findings: Short stature and Depressed nasal bridge. 52 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	5	Mild postnatal growth retardation, Short stature, Decreased growth hormone responses to growth hormone-releasing hormone challenge
Bones and joints	4	Narrow vertebral interpedicular distance, Accelerated skeletal maturation, Hypoplastic vertebral bodies
Brain and nerves	4	Mild global developmental delay, Hydrocephalus, Intellectual disability
Hormones	4	Decreased growth hormone responses to growth hormone-releasing hormone challenge, Congenital hypothyroidism, Hypogonadism
Lab test results	3	Elevated circulating parathyroid hormone level, Elevated circulating calcitonin concentration, Elevated circulating thyroid-stimulating hormone concentration
Arms and legs	3	Cone-shaped epiphyses of the phalanges of the hand, Disproportionate short-limb short stature, Short phalanx of finger
Eyes	2	Strabismus, Damage to the optic nerve (optic atrophy)
Head and neck	2	Hypoplasia of the maxilla, Mandibular prognathia
Pregnancy and birth	2	Congenital hypothyroidism, Neonatal epiphyseal stippling
Ears	1	Hearing loss (hearing impairment)
Kidneys and urinary system	1	Unilateral renal agenesis
Muscles	1	Damage to the optic nerve (optic atrophy)

Age of onset: at birth, before birth.

GeneReviews

Clinical Guidance

The Carney complex (CNC) of skin pigmentary abnormalities, myxomas, endocrine tumors or overactivity, and schwannomas may be evident at birth, although the median age of diagnosis is 20 years. To date, more than 750 individuals have been identified with a pathogenic variant in PRKAR1A. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Carney Complex: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Skin pigment abnormalities	70%	—
Myxomas (cutaneous mucosal)	50%	—

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Consensus clinical diagnostic criteria for Carney complex (CNC) have been published . Criteria are reprinted with permission from Elsevier Publishing.

Suggestive Findings

CNC should be suspected in individuals with any of the following major diagnostic criteria with or without additional common findings.

Major diagnostic criteria

Source: GeneReviews — "Carney Complex"

GeneReviews

Differential Diagnosis

Genes of interest in the differential diagnosis of Carney complex (CNC) are summarized in . Table 3. Genes of Interest in the Differential Diagnosis of Carney Complex

Gene/ Genetic Mechanism	Disorder	MOI	Selected Features of Disorder Overlapping w/Carney Complex	Distinguishing Features/ Comment
Abnormal regulation of gene transcription in BWS critical region1	Beckwith-Wiedemann syndrome (BWS)	See footnote 1.	Adrenal cortical tumors

Genetic testing for PRKAR1A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Acrodysostosis 1 with or without hormone resistance has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Acrodysostosis 1 with or without hormone resistance. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Carney complex (CNC), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Carney Complex: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Cardiac myxomas	Echocardiogram	Beginning in childhood
Cutaneous myxomas	Clinical exam for cutaneous myxomas	—
PPNAD	Urinary free cortisol levels	Beginning in adolescence; Diurnal cortisol levels (11:30 pm, 12:00 am, 7:30 am; 8:00 am sampling); Dexamethasone stimulation test (modified Liddle's test)1; Adrenal CT exam
Pituitary adenomas	Serum IGF-1 levels	Beginning in adolescence; Pituitary MRI; Three-hour oral glucose tolerance test; 90-minute thyrotropin-releasing hormone testing
Thyroid tumors	Thyroid ultrasonography	Beginning in adolescence Testicular tumors
Ovarian tumors	In females, transabdominal US of ovaries	Beginning in adolescence
Psammomatous melanotic schwannoma	Clinical assessment	These tumors may occur anywhere, present w/mass effect signs/symptoms. MRI (brain, spine, chest, abdomen, retroperitoneum, pelvis)
Pancreatic tumors	Abdominal imaging may be required if suggestive clinical signs.	—
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of Carney complex to facilitate medical personal decision making IGF-1 = insulin-like growth factor 1; MOI = mode of inheritance; PPNAD = primary pigmented nodular adrenocortical disease; US = ultrasound 1. 2.
Carney Complex: Recommended Surveillance System/Concern	Evaluation	Frequency
Cardiac myxomas	Echocardiogram	Annually beginning in childhood (prior to puberty); Biannually for those w/history of excised cardiac myxoma
Cutaneous myxomas	Clinical exam for cutaneous myxomas	As needed
PPNAD	Urinary free cortisol levels	Annually beginning in adolescence; Diurnal cortisol levels (11:30 pm, 12:00 am, 7:30 am; 8:00 am sampling); Dexamethasone stimulation test (modified Liddle's test)1; Adrenal CT exam
Pituitary adenomas	Serum IGF-1	Annually beginning in adolescence; Pituitary MRI; Three-hour oral glucose tolerance test; 90-minute thyrotropin-releasing hormone testing
Thyroid tumors	Thyroid US	Annually beginning in adolescence
Testicular tumors	Monitoring of growth rate pubertal staging	At each visit beginning in childhood in males Testicular US
Ovarian tumors	Transabdominal US of ovaries	As needed to follow up abnormal findings in females Psammomatous melanotic schwannoma
Pancreatic tumors	Clinical exam for mass effects	As needed IGF-1 = insulin-like growth factor 1; PPNAD = primary pigmented nodular adrenocortical disease; US = ultrasound 1.

Source: GeneReviews — "Carney Complex"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Carney Complex"

Clinical Trials

View trials for Acrodysostosis 1 with or without hormone resistance

Explore Trials

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended for individuals with CNC and at-risk relatives. Table 6. Carney Complex: Recommended Surveillance

System/Concern	Evaluation	Frequency
Cardiac myxomas	Echocardiogram	Annually beginning in childhood (prior to puberty); Biannually for those w/history of excised cardiac myxoma
Cutaneous myxomas	Clinical exam for cutaneous myxomas	As needed
PPNAD	Urinary free cortisol levels	Annually beginning in adolescence; Diurnal cortisol levels (11:30 pm, 12:00 am, 7:30 am; 8:00 am sampling); Dexamethasone stimulation test (modified Liddle's test)1; Adrenal CT exam
Pituitary adenomas	Serum IGF-1	Annually beginning in adolescence; Pituitary MRI; Three-hour oral glucose tolerance test; 90-minute thyrotropin-releasing hormone testing
Thyroid tumors	Thyroid US	Annually beginning in adolescence
Testicular tumors	Monitoring of growth rate pubertal staging	At each visit beginning in childhood in males Testicular US
Ovarian tumors	Transabdominal US of ovaries	As needed to follow up abnormal findings in females Psammomatous melanotic schwannoma
Pancreatic tumors	Clinical exam for mass effects	As needed IGF-1 = insulin-like growth factor 1; PPNAD = primary pigmented nodular adrenocortical disease; US = ultrasound 1.

Source: GeneReviews — "Carney Complex"

Phenotype severity distribution: 15 always present features, 2 very common features, 7 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Acrodysostosis 1 with or without hormone resistance.

206 publications have been identified in PubMed for Acrodysostosis 1 with or without hormone resistance. Research spans Basic Science / Preclinical (35%), Review / Meta-Analysis (32%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Laboratory research	66	35%
Research summaries	61	32%
Disease patterns and progression	34	18%
Clinical study results	16	8%
Patient case studies	5	3%
Testing and diagnosis research	4	2%
New treatment approaches	3	2%
Other research	1	1%

Recent Publications

Yu J (2026). [PMID: 40628562](https://pubmed.ncbi.nlm.nih.gov/40628562/). *Placenta*. [Review / Meta-Analysis]
Verdegaal TJ (2026). [PMID: 41546595](https://pubmed.ncbi.nlm.nih.gov/41546595/). *Scand J Med Sci Sports*. [Epidemiology / Natural History]
Alban A (2026). [PMID: 41674338](https://pubmed.ncbi.nlm.nih.gov/41674338/). *J Biochem Mol Toxicol*. [Basic Science / Preclinical]
Irfan Z (2026). [PMID: 41534598](https://pubmed.ncbi.nlm.nih.gov/41534598/). *Diabetes Res Clin Pract*. [Review / Meta-Analysis]
Lin Y (2026). [PMID: 41274199](https://pubmed.ncbi.nlm.nih.gov/41274199/). *Atherosclerosis*. [Review / Meta-Analysis]
Andersen ML (2026). [PMID: 41708399](https://pubmed.ncbi.nlm.nih.gov/41708399/). *EBioMedicine*. [Review / Meta-Analysis]
Kubrak O (2026). [PMID: 41423082](https://pubmed.ncbi.nlm.nih.gov/41423082/). *Mol Metab*. [Basic Science / Preclinical]
Pacheco FS (2026). [PMID: 41915598](https://pubmed.ncbi.nlm.nih.gov/41915598/). *Neuroimmunomodulation*. [Review / Meta-Analysis]
Zhang J (2026). [PMID: 41912503](https://pubmed.ncbi.nlm.nih.gov/41912503/). *Cell Death Dis*. [Basic Science / Preclinical]
Li W (2026). [PMID: 41784617](https://pubmed.ncbi.nlm.nih.gov/41784617/). *Cancer Res*. [Basic Science / Preclinical]

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:101800

GARD

Genetic and Rare Diseases Info Center

GARD:15030

Questions for Your Care Team

→Should I pursue genetic testing for PRKAR1A, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Acrodysostosis 1 with or without hormone resistance

Acrodysostosis 1 with or without hormone resistance is a rare skeletal disorder that affects bone growth. It is known as an autosomal dominant condition, meaning it can be passed from one generation to another. People with this condition typically have short stature and unique bone structures in their hands and face. This condition is caused by changes in a specific gene. The effects on bone development and hormone responses can vary, and the condition is characterized by features such as short fingers (brachydactyly) and distinct facial traits. Hormonal resistance, where the body does not respond normally to certain hormones, is also commonly observed.

Common signs of the condition include short stature, brachydactyly (short fingers), and characteristic facial features. In many cases, there is also resistance to multiple hormones, which can affect various body systems.

Acrodysostosis 1 with or without hormone resistance is caused by mutations in the PRKAR1A gene. It is inherited in an autosomal dominant pattern, which means that a change in just one copy of the gene can cause the disorder. This genetic mutation affects the cAMP-dependent protein kinase, impacting bone development and hormone function. Associated genes include PRKAR1A.

Latest News & Developments

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AI-curated news mentioning Acrodysostosis 1 with or without hormone resistance

Updated Jul 21, 2026

Gene & Cell Therapy•

Pipeline & Approvals

•2 months ago(Jul 21)

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

FDA approved Casgevy CRISPR gene therapy for children as young as 2 with sickle cell disease on July 1, 2026. Here's what families need to know about this milestone. Approximately 5,500 additional American children are now eligible for this established one-time therapy, according to Vertex Pharmaceuticals, Casgevy's developer. Casgevy also covers transfusion-dependent beta-thalassemia in this new age indication. Sickle cell disease is a lifelong inherited blood disorder that warps red blood cells into stiff, crescent shapes that can block blood flow, starving organs and tissues of oxygen. The world's first CRISPR-based gene therapy has been approved for children as young as two years old, opening the possibility of a single, potentially curative treatment to thousands of American children with sickle cell disease before years of organ damage can narrow what medicine can do for them. Families with children aged 2 and older who have sickle cell disease should speak with their pediatric hematologist about whether Casgevy is appropriate to consider at this stage of their child's disease. Ask specifically which authorized treatment centers perform Casgevy in your region. Treatment is available only at specialized sites, and geographic access remains limited. Contact your child's insurance plan or Medicaid office to ask about coverage. Medicaid coverage for gene therapies varies by state, and some states have developed outcomes-based payment models for high-cost therapies. "With today's decision, pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases," said Karim Mikhail, acting director of the Office of Therapeutic Products at the FDA's Center for Biologics Evaluation and Research, according to the FDA press announcement. Casgevy is a non-viral, ex vivo CRISPR/Cas9 gene-edited cell therapy.

View all news for Acrodysostosis 1 with or without hormone resistance

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Acrodysostosis 1 with or without hormone resistance

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Latest News & Developments

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

Acrodysostosis 1 with or without hormone resistance

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Acrodysostosis 1 with or without hormone resistance?

What are the symptoms of Acrodysostosis 1 with or without hormone resistance?

What causes Acrodysostosis 1 with or without hormone resistance?

How is Acrodysostosis 1 with or without hormone resistance inherited?

How is Acrodysostosis 1 with or without hormone resistance diagnosed?

Are there treatments for Acrodysostosis 1 with or without hormone resistance?

What complications can arise from Acrodysostosis 1 with or without hormone resistance?

How does Acrodysostosis 1 with or without hormone resistance affect daily life?

What is the life expectancy for someone with Acrodysostosis 1 with or without hormone resistance?

Are there any specialists recommended for managing Acrodysostosis 1 with or without hormone resistance?

Latest News & Developments

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease