Congenital fibrosis of extraocular muscles

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ORPHA:45358OMIM:616219H49.8
Who is this for?
Show terms as
1Active trials17Specialists8Treatment 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:

Finger aplasiaHP:0009380Impaired ocular adductionHP:0000542Congenital fibrosis of extraocular musclesHP:0001491Abnormality of ocular abductionHP:0011347Levator palpebrae superioris atrophyHP:0012241Limited vertical extraocular movementHP:0025721Slow pupillary light responseHP:0030211Abnormal best corrected visual acuity testHP:0030534Absent Bell phenomenonHP:6000709Abnormality of refractionHP:0000539MiosisHP:0000616Compensatory chin elevationHP:0001477Nonprogressive restrictive external ophthalmoplegiaHP:0007831Abnormal involuntary eye movementsHP:0012547Abnormal pupil shapeHP:0025309
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

2 events
May 2014First-line Gemcitabine Plus Cisplatin in Locally Advanced (IIIC Stage) Breast Cancer Patients

The National Center of Oncology, Azerbaijan — PHASE2

TrialACTIVE NOT RECRUITING
Feb 2004Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies

Boston Children's Hospital

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Congenital fibrosis of extraocular muscles.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Actively Recruiting
PI: Elizabeth Engle, MD (Boston Children's Hospital) · Sites: Boston, Massachusetts

Specialists

17 foundView all specialists →
YZ
Yingjie Zhang
NEW YORK, NY
Specialist
1 Congenital fibrosis of extraocular muscles publication
MW
M Edward Wilson
Specialist
1 Congenital fibrosis of extraocular muscles publication
ES
Elmas Yuksel Sukun
Specialist
1 Congenital fibrosis of extraocular muscles publication
AI
Aslı Hamis Inal
Specialist
1 Congenital fibrosis of extraocular muscles publication
OO
Osman Bulut Ocak
Specialist
1 Congenital fibrosis of extraocular muscles publication
RH
Rui Huang
Specialist
1 Congenital fibrosis of extraocular muscles publication
QS
Qin Shu
BALTIMORE, MD
Specialist
1 Congenital fibrosis of extraocular muscles publication
WM
Walter K Myers
CHILLICOTHE, OH
Specialist
1 Congenital fibrosis of extraocular muscles publication
SN
Shaun A Nguyen
Specialist
1 Congenital fibrosis of extraocular muscles publication
JS
Joshua M Van Swol
Specialist
1 Congenital fibrosis of extraocular muscles publication
MO
Mehmet Ozveren
Specialist
1 Congenital fibrosis of extraocular muscles publication
BG
Birsen Gökyigit
Specialist
1 Congenital fibrosis of extraocular muscles publication
MC
Moxin Chen
Specialist
1 Congenital fibrosis of extraocular muscles publication
DZ
Deyi Jasmine Zhu
Specialist
1 Congenital fibrosis of extraocular muscles publication
PX
Pengcheng Xun
Specialist
1 Congenital fibrosis of extraocular muscles publication
EP
Elchin Mansurov, PhD
Specialist
PI on 1 active trial

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 Congenital fibrosis of extraocular muscles.

Search all travel grants →NORD Financial Assistance ↗

Community

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Common questions about Congenital fibrosis of extraocular muscles

Are there clinical trials for Congenital fibrosis of extraocular muscles?

Yes — 1 recruiting clinical trial is currently listed for Congenital fibrosis of extraocular muscles on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Congenital fibrosis of extraocular muscles?

17 specialists and care centers treating Congenital fibrosis of extraocular muscles are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.