Autosomal anomaly syndrome

Last reviewed March 21, 2026

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ORPHA:98127

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18Specialists 8Treatment centers

Where are you in your journey?

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

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Overview

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events

Jun 2021Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F

Jaeb Center for Health Research

TrialACTIVE NOT RECRUITING

Jan 2016Stem Cell Ophthalmology Treatment Study II

MD Stem Cells — NA

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Autosomal anomaly syndrome.

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Clinical Trials

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No actively recruiting trials found for Autosomal anomaly syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the Autosomal anomaly syndrome community →

Specialists

18 foundView all specialists →

MP

Marina Noris, PhD

Specialist

Atypical hemolytic uremic syndrome Genetic thrombotic microangiopathy Primary membranoproliferative glomerulonephritis+4 more

PI on 2 active trials

Active trials Directions Travel grants

WM

William A Gahl, M.D.

Bethesda, Maryland

Specialist

Rare Disease Specialist

Congenital muscular dystrophy due to dystroglycanopathy Cystinosis Distal myopathy+14 more

PI on 12 active trials

Active trials Directions Travel grants

CM

Clifford Kashtan, MD

MINNEAPOLIS, MN

Specialist

Alport syndrome Autosomal dominant Alport syndrome X-linked Alport syndrome

PI on 1 active trial

Active trials Directions Travel grants

AM

Angela Smith, MD

Specialist

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease Autosomal recessive severe congenital neutropenia Congenital neutropenia+9 more

PI on 3 active trials

Active trials Directions Travel grants

MP

Marina Cuchel, MD, PhD

Specialist

Apolipoprotein A-I deficiency Autosomal recessive multiple pterygium syndrome Burning mouth syndrome+6 more

PI on 8 active trials

Active trials Directions Travel grants

EP

Emma Guttman-Yassky, MD, PhD

Specialist

Alopecia Autosomal ichthyosis syndrome Autosomal recessive congenital ichthyosis+8 more

PI on 4 active trials

Active trials Directions Travel grants

DM

Diane George, MD

Specialist

Autosomal recessive severe congenital neutropenia Beta-thalassemia and related disorders Congenital amegakaryocytic thrombocytopenia+17 more

PI on 2 active trials

Active trials Directions Travel grants

KD

Kimberly Kasow, DO

Specialist

Autosomal recessive severe congenital neutropenia Congenital amegakaryocytic thrombocytopenia Congenital neutropenia+10 more

PI on 5 active trials

Active trials Directions Travel grants

GC

George Chen

Specialist

Acute myeloid leukaemia with myelodysplasia-related features Acute myeloid leukemia with recurrent genetic anomaly Acute radiation syndrome+28 more

PI on 2 active trials

Active trials Directions Travel grants

AM

Amy Paller, MD

CHICAGO, IL

Specialist

Anterior cutaneous nerve entrapment syndrome Autosomal ichthyosis syndrome Autosomal recessive congenital ichthyosis+7 more

PI on 7 active trials

Active trials Directions Travel grants

JM

Jeffrey Weiss, MD

Specialist

Autosomal dominant optic atrophy and congenital deafness Cone rod dystrophy Congenital glaucoma+4 more

PI on 2 active trials

Active trials Directions Travel grants

MM

Markus Schuelke, MD

Specialist

Autosomal recessive multiple pterygium syndrome Multiple pterygium syndrome Pyruvate metabolism disorder

PI on 1 active trial

Active trials Directions Travel grants

LM

Lisa Guay-Woodford, MD

WASHINGTON, DC

Specialist

Autosomal dominant multiple pterygium syndrome Autosomal recessive polycystic kidney disease Bardet-Biedl syndrome+12 more

PI on 2 active trials

Active trials Directions Travel grants

BM

Benjamin Landis, MD

Atlanta, Georgia

Specialist

Rare Disease Specialist

Arterial tortuosity syndrome Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency Autosomal recessive cutis laxa type 1+11 more

PI on 1 active trial

Active trials Directions Travel grants

JM

John T Horan, MD

Specialist

Aplasia cutis congenita Autosomal recessive severe congenital neutropenia Congenital neutropenia+16 more

PI on 1 active trial

Active trials Directions Travel grants

MM

Meral Gunay-Aygun, M.D.

BETHESDA, MD

Specialist

Autosomal recessive polycystic kidney disease Caroli disease Choledochal cyst+3 more

PI on 2 active trials

Active trials Directions Travel grants

LB

Lauri Burroughs

Seattle, Washington

Specialist

Rare Disease Specialist

Adenosine Deaminase Deficiency Combined T and B cell immunodeficiency Primary immunodeficiency+5 more

PI on 3 active trials

Active trials Directions Travel grants

SM

Swati A Sathe, MD, MS

PATERSON, NJ

Specialist

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy Multiple pterygium syndrome

PI on 1 active trial2 Autosomal anomaly syndrome publications

Active trials Directions Travel grants

Treatment Centers

8 centers

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

UCLA UDN Clinical Site ↗

UCLA Health

📍 Los Angeles, CA

Baylor College of Medicine UDN Clinical Site ↗

Baylor College of Medicine

📍 Houston, TX

Harvard/MGH UDN Clinical Site ↗

Massachusetts General Hospital

📍 Boston, MA

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

UCLA Rare Disease Day Program ↗

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Autosomal anomaly syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Autosomal anomaly syndrome

Disease timeline:

New recruiting trial: Stem Cell Ophthalmology Treatment Study II

A new clinical trial is recruiting patients for Autosomal anomaly syndrome

New recruiting trial: HoFH, the International Clinical Collaborators Registry

A new clinical trial is recruiting patients for Autosomal anomaly 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 Autosomal anomaly syndrome

Which specialists treat Autosomal anomaly syndrome?

18 specialists and care centers treating Autosomal anomaly syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.