How rare is Antley-Bixler syndrome?

Antley-Bixler syndrome is classified as not well established. The estimated prevalence is approximately Unknown. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Antley-Bixler syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Antley-Bixler syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Antley-Bixler syndrome?

Antley-Bixler syndrome can lead to several complications due to its effects on the bones and joints. For example, craniosynostosis may require surgery to correct the shape of the skull and prevent pressure on the brain. Additionally, joint contractures can make movement difficult, which might affect daily activities and mobility.

How does Antley-Bixler syndrome affect daily life?

Living with Antley-Bixler syndrome can present challenges, especially due to joint contractures and bone abnormalities. These issues might make it harder for individuals to perform everyday tasks or participate in physical activities. Support from family and therapy can help improve mobility and independence.

What is the life expectancy for someone with Antley-Bixler syndrome?

Currently, there is limited information about the life expectancy of individuals with Antley-Bixler syndrome. Because it is a rare condition, each case can vary widely in severity and complications. Regular medical care and monitoring can help manage symptoms and improve quality of life.

Are there specific specialists that should be consulted for Antley-Bixler syndrome?

Yes, individuals with Antley-Bixler syndrome may benefit from seeing a team of specialists. This can include orthopedic doctors for bone and joint issues, craniofacial surgeons for skull shape corrections, and physical therapists to help with movement. Working with a team can provide comprehensive care tailored to the needs of the individual.

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Antley-Bixler syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Antley-Bixler syndrome

MONDO:0008803

Also known as:trapezoidocephaly-synostosis syndromemultisynostotic osteodysgenesis with long bone fracturesosteodysgenesis, multisynostotic with fractures

Overview

Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.

ResearchLimited published research (7 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Brachycephaly, Delayed cranial suture closure, Posteriorly rotated ears, and Anteverted nares and others; and common findings: Choanal atresia, Proptosis, Craniosynostosis, and Abnormal renal morphology. 30 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	5	Joint stiffness, Femoral bowing, Narrow pelvis bone

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

Suggestive Findings

Cytochrome P450 oxidoreductase deficiency (PORD) is an autosomal recessive disorder with a broad phenotypic spectrum including skeletal malformations resembling the Antley-Bixler syndrome (ABS) phenotype and abnormalities in adrenal steroid biosynthesis resulting in congenital adrenal hyperplasia (CAH).

Clinical Findings

Skeletal abnormalities. PORD should be suspected in individuals with features of ABS. Affected individuals may present with the following congenital craniofacial and skeletal anomalies:

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 Antley-Bixler syndrome. 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 PORD, the following evaluations are recommended:

Evaluations by appropriate specialists in endocrinology, clinical genetics, neurosurgery, otolaryngology, and cardiology

Prognosis

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

GeneReviews

Surveillance Guidelines

Individuals with PORD should be seen by a specialist tertiary pediatric endocrine service throughout childhood to closely monitor their development and adjust steroid supplementation. Because of the presence of developmental delays in many individuals with ABS, periodic formal developmental assessments may be indicated. However, interpretation of these assessments may be complicated by the physical limitations of the disorder. Screening evaluations are likely to underestimate cognitive abilities. Therefore, evaluations should be done in centers with expertise and experience in developmental testing.

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 Antley-Bixler syndrome.

7 publications have been identified in PubMed for Antley-Bixler syndrome. Research spans Basic Science / Preclinical (43%), Review / Meta-Analysis (29%), and Case Report / Case Series (14%).

Recent Publications

Zhang C (2026). [PMID: 42039121](https://pubmed.ncbi.nlm.nih.gov/42039121/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]
Zhang XJ (2026). [PMID: 42125235](https://pubmed.ncbi.nlm.nih.gov/42125235/). *Front Endocrinol (Lausanne)*. [Basic Science / Preclinical]
Leduc F (2025). [PMID: 40673520](https://pubmed.ncbi.nlm.nih.gov/40673520/). *Clinical genetics*. [Review / Meta-Analysis]
Zhang D (2025). [PMID: 40533672](https://pubmed.ncbi.nlm.nih.gov/40533672/). *Reproductive sciences (Thousand Oaks, Calif.)*. [Epidemiology / Natural History]
Chen F (2025). [PMID: 40659633](https://pubmed.ncbi.nlm.nih.gov/40659633/). *Cell death discovery*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:06 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:83

GARD

Genetic and Rare Diseases Info Center

GARD:5826

Questions for Your Care Team

→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 Antley-Bixler syndrome

Antley-Bixler syndrome is a very rare disorder that mainly affects the bones of the head and face. It is defined by features such as craniosynostosis, which is the premature fusion of the skull bones, and midface hypoplasia, meaning the middle part of the face does not develop fully. Additionally, people with this condition may have radiohumeral synostosis (where the bones of the upper arm and forearm are joined together), bowing of the thigh bone (femoral bowing), and joint contractures, which can make movement more difficult. These characteristics help doctors recognize the disorder.

Common signs of Antley-Bixler syndrome include premature closure of skull bones (craniosynostosis), an underdeveloped midface, abnormal joining of arm bones (radiohumeral synostosis), bending of the thigh bones (femoral bowing), and tight or fixed joints (joint contractures).

Information about causes is currently limited for this condition. Associated genes include POR, FGFR2.

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Antley-Bixler syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA

Antley-Bixler syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Clinical Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Antley-Bixler syndrome?

What are the symptoms of Antley-Bixler syndrome?

What causes Antley-Bixler syndrome?

How rare is Antley-Bixler syndrome?

How is Antley-Bixler syndrome diagnosed?

Are there treatments for Antley-Bixler syndrome?

What complications can arise from Antley-Bixler syndrome?

How does Antley-Bixler syndrome affect daily life?

What is the life expectancy for someone with Antley-Bixler syndrome?

Are there specific specialists that should be consulted for Antley-Bixler syndrome?

Clinical Guidance

Explore clinical features

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA