Spondyloepiphyseal dysplasia congenita

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ORPHA:94068OMIM:183900Q77.7
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1Active trials17Specialists8Treatment centers

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

Also known as:

Congenital spondyloepiphyseal dysplasiaSEDCSpranger-Wiedemann disease

Clinical phenotype terms— hover any for plain English:

Disproportionate short-trunk short statureHP:0003521Dysplasia of the femoral headHP:0010575Aplasia/hypoplasia involving bones of the extremitiesHP:0045060Flat acetabular roofHP:0003180Upper limb undergrowthHP:0009824Hip painHP:0030838Increased head circumferenceHP:0040194Abnormally ossified vertebraeHP:0100569
Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

1 event
Jun 2022A Natural History Study in Children With a Type II Collagen Disorder With Short Stature

Innoskel — NA

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Spondyloepiphyseal dysplasia congenita.

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

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
N/A1 trial
A Natural History Study in Children With a Type II Collagen Disorder With Short Stature
N/A
Actively Recruiting
PI: Andrea Superti-Furga (Centre hospitalier universitaire vaudois, Lausanne) · Sites: Paris; Madrid · Age: 0–12 yrs
View on ClinicalTrials.gov ↗I'm interested →

Specialists

17 foundView all specialists →
MB
Mohan V Belthur
PHOENIX, AZ
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
MA
Moe Akahira-Azuma
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
NN
Naoyuki Nakamura
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
TY
Takayuki Yokoi
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
MM
Mari Minatogawa
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
NH
Noriaki Harada
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
YT
Yoshinori Tsurusaki
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
KK
Kenji Kurosawa
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
YJ
Yang Jiao
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
JZ
Jun-Duo Zhao
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
XH
Xu-An Huang
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
HC
Hao-Yu Cai
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
JS
Jian-Xiong Shen
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
RB
Roy U Bisht
SANTA BARBARA, CA
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
DT
Dane C Van Tassel
Specialist
1 Spondyloepiphyseal dysplasia congenita publication
AS
Andrea Superti-Furga
Paris
Specialist

Rare Disease Specialist

PI on 1 active trial52 Spondyloepiphyseal dysplasia congenita publications
NM
Nancy Mendelsohn, MD
SAINT PAUL, MN
Specialist
PI on 1 active trial

Treatment Centers

8 centers
⚗️ Trial Site

Hospital Universitario La Paz

📍 Madrid, Madrid

🏥 NORD

Stanford Medicine Rare Disease Center ↗

Stanford Medicine

📍 Stanford, CA

🏥 NORD

Mayo Clinic Center for Individualized Medicine ↗

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🔬 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

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program ↗

National Institutes of Health

📍 Bethesda, MD

🏥 NORD

Baylor College of Medicine Rare Disease Center ↗

Baylor College of Medicine

📍 Houston, TX

Travel Grants

No travel grants are currently matched to Spondyloepiphyseal dysplasia congenita.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Spondyloepiphyseal dysplasia congenita

Disease timeline:

New trial: A Natural History Study in Children With a Type II Collagen Disorder With Short Stature

Phase NA trial recruiting. Natural History Study

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 Spondyloepiphyseal dysplasia congenita

Are there clinical trials for Spondyloepiphyseal dysplasia congenita?

Yes — 1 recruiting clinical trial is currently listed for Spondyloepiphyseal dysplasia congenita on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Spondyloepiphyseal dysplasia congenita?

17 specialists and care centers treating Spondyloepiphyseal dysplasia congenita are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.