Craniosynostosis-anal anomalies-porokeratosis syndrome

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ORPHA:85199OMIM:603116Q87.8
Who is this for?
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1Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Also known as:

Clinical phenotype terms— hover any for plain English:

Absent eyelashesHP:0000561Parietal foraminaHP:0002697Ectopic anusHP:0004397Coronal craniosynostosisHP:0004440Large posterior fontanelleHP:0004491Aplastic clavicleHP:0006660
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

10 events
Mar 2026Safety and Efficacy of Lyophilized Faecal Microbiota Transplantation Via Capsules in Treatment of Irritable Bowel Syndrome

University of Rijeka — PHASE1, PHASE2

TrialRECRUITING
Dec 2025OPT101 in Patients With Community Acquired Pneumonia (CAP) With Sepsis

Op-T LLC — PHASE1

TrialNOT YET RECRUITING
Jul 2025Study of Fecal Microbiota Transplantation (FMT) in Severe IBS Patients

Assistance Publique - Hôpitaux de Paris — PHASE3

TrialNOT YET RECRUITING
Apr 2025Examination of the Large Intestine With Camera Capsule in Patients With Blood Stream Infection With Gut-associated Bacteria

Odense University Hospital

TrialRECRUITING
Mar 2025Clinical Study on the Intervention of Xuesaitong Soft Capsules in Post-Intervention Patients with Acute Coronary Syndrome and Clinical Research Protocol

Xiyuan Hospital of China Academy of Chinese Medical Sciences — PHASE3

TrialNOT YET RECRUITING
Aug 2024Sitagliptin or BeiDouGen Capsule Improve the Pregnancy Outcome in Patients with PCOS

Peking University Third Hospital — NA

TrialRECRUITING
Jan 2023Evaluation of the SIMBA Capsule for Small Intestinal Dysbiosis

Nimble Science Ltd.

TrialRECRUITING
Feb 2022Study of Progression of Community Acquired Pneumonia in the Hospital in Patients With More Severe Preexisting Diseases and Immunosuppression

Pneumonia Research Network on Genetic Resistance and Susceptibility for the Evolution of Severe Seps

TrialRECRUITING
Feb 2022Sleep-disordered Breathing and Neurocognitive Assessment in Children and Young Adults

Assistance Publique - Hôpitaux de Paris — NA

TrialRECRUITING
Jan 2018Fulminant Severe CAP - an Observational Study

University of Trieste

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Craniosynostosis-anal anomalies-porokeratosis syndrome.

View clinical trials →

No actively recruiting trials found for Craniosynostosis-anal anomalies-porokeratosis syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Craniosynostosis-anal anomalies-porokeratosis syndrome community →

Specialists

1 foundView all specialists →
JQ
Jie Qiao
Specialist
PI on 2 active trials49 Craniosynostosis-anal anomalies-porokeratosis syndrome publications

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Craniosynostosis-anal anomalies-porokeratosis syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Craniosynostosis-anal anomalies-porokeratosis syndromeForum →

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Latest news about Craniosynostosis-anal anomalies-porokeratosis syndrome

Disease timeline:

New recruiting trial: Study of Progression of Community Acquired Pneumonia in the Hospital in Patients With More Severe Preexisting Diseases and Immunosuppression

A new clinical trial is recruiting patients for Craniosynostosis-anal anomalies-porokeratosis syndrome

New recruiting trial: Safety and Efficacy of Lyophilized Faecal Microbiota Transplantation Via Capsules in Treatment of Irritable Bowel Syndrome

A new clinical trial is recruiting patients for Craniosynostosis-anal anomalies-porokeratosis syndrome

New recruiting trial: Evaluation of the SIMBA Capsule for Small Intestinal Dysbiosis

A new clinical trial is recruiting patients for Craniosynostosis-anal anomalies-porokeratosis syndrome

New recruiting trial: Sleep-disordered Breathing and Neurocognitive Assessment in Children and Young Adults

A new clinical trial is recruiting patients for Craniosynostosis-anal anomalies-porokeratosis syndrome

New recruiting trial: Examination of the Large Intestine With Camera Capsule in Patients With Blood Stream Infection With Gut-associated Bacteria

A new clinical trial is recruiting patients for Craniosynostosis-anal anomalies-porokeratosis syndrome

New recruiting trial: Fulminant Severe CAP - an Observational Study

A new clinical trial is recruiting patients for Craniosynostosis-anal anomalies-porokeratosis syndrome

New recruiting trial: A Study for Imaging the Lower Gastrointestinal Tract Using a Retro-TCE Capsule

A new clinical trial is recruiting patients for Craniosynostosis-anal anomalies-porokeratosis syndrome

New recruiting trial: Sitagliptin or BeiDouGen Capsule Improve the Pregnancy Outcome in Patients with PCOS

A new clinical trial is recruiting patients for Craniosynostosis-anal anomalies-porokeratosis syndrome

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

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 Craniosynostosis-anal anomalies-porokeratosis syndrome

Which specialists treat Craniosynostosis-anal anomalies-porokeratosis syndrome?

1 specialists and care centers treating Craniosynostosis-anal anomalies-porokeratosis syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.