Caudal duplication

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ORPHA:1756OMIM:607864Q87.8
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1FDA treatments15Specialists8Treatment centers1Financial resources

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

Caudal duplication syndrome (also known as caudal duplication anomaly or caudal twinning) is an extremely rare congenital malformation characterized by the duplication of structures derived from the caudal (lower) end of the embryo. This condition results from a partial twinning event affecting the caudal region during early embryonic development. Affected individuals may present with duplication of the lower spine, hindgut, urogenital structures, and lower limbs to varying degrees. The spectrum of anomalies can include duplication of the colon, rectum, bladder, urethra, and external genitalia, as well as vertebral anomalies and diastomyelia (split spinal cord). The clinical presentation is highly variable, ranging from minor duplications of a single organ system to extensive duplications involving multiple caudal structures. Commonly reported features include duplicated or imperforate anus, genitourinary malformations (such as duplicated bladder or uterus), gastrointestinal duplications, sacral vertebral anomalies, and meningomyelocele. Some patients may also have associated anomalies of the lower extremities. The condition is typically identified at birth or prenatally through imaging studies. Management of caudal duplication syndrome is primarily surgical and must be individualized based on the specific structures involved and the severity of the duplications. Surgical correction may address intestinal, urogenital, and spinal anomalies. A multidisciplinary team including pediatric surgeons, urologists, orthopedic surgeons, and neurosurgeons is often required. Long-term follow-up is essential to monitor for complications related to bowel function, urinary continence, and neurological status. There is no curative treatment, and the prognosis depends on the extent and complexity of the malformations.

Also known as:

Clinical phenotype terms— hover any for plain English:

Abnormal penis morphologyHP:0000036Ureteral duplicationHP:0000073MyelomeningoceleHP:0002475Uterus didelphysHP:0003762Abnormal sacrum morphologyHP:0005107Bifid sacrumHP:0009791Spinal cord lesionHP:0100561Urogenital fistulaHP:0100589Intestinal duplicationHP:0100668
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

1 available

DEXMEDETOMIDINE HYDROCHLORIDE

DEXMEDETOMIDINE HYDROCHLORIDE· Sun Pharmaceuticals Industries, Inc.

Sedation of non-intubated adult patients prior to and/or during surgical and other procedures.

No actively recruiting trials found for Caudal duplication at this time.

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

Search ClinicalTrials.gov ↗Join the Caudal duplication community →

Specialists

15 foundView all specialists →
JY
Jeyul Yang
Specialist
1 Caudal duplication publication
KK
Kyung Hyun Kim
Specialist
1 Caudal duplication publication
JL
Ji Yeoun Lee
Specialist
1 Caudal duplication publication
KW
Kyu-Chang Wang
Specialist
1 Caudal duplication publication
KW
Kai Wang
Specialist
1 Caudal duplication publication
LY
Liucheng Yang
Specialist
1 Caudal duplication publication
CP
Chunhui Peng
Specialist
1 Caudal duplication publication
WP
Wenbo Pang
Specialist
1 Caudal duplication publication
ZW
Zengmeng Wang
Specialist
1 Caudal duplication publication
DZ
Dan Zhang
Specialist
1 Caudal duplication publication
DW
Dongyang Wu
Specialist
1 Caudal duplication publication
SK
Saadia Kanwal
Specialist
1 Caudal duplication publication
SN
Shamoona Naqvi
Specialist
1 Caudal duplication publication
NI
Naila Israr
Specialist
1 Caudal duplication publication
YC
Yajun Chen
GLENDALE, CA
Specialist
1 Caudal duplication publication

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

Financial Resources

1 resources
DEXMEDETOMIDINE HYDROCHLORIDE(DEXMEDETOMIDINE HYDROCHLORIDE)Sun Pharmaceuticals Industries, Inc.

Travel Grants

No travel grants are currently matched to Caudal duplication.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Caudal duplication

No recent news articles for Caudal duplication.

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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 Caudal duplication

What is Caudal duplication?

Caudal duplication syndrome (also known as caudal duplication anomaly or caudal twinning) is an extremely rare congenital malformation characterized by the duplication of structures derived from the caudal (lower) end of the embryo. This condition results from a partial twinning event affecting the caudal region during early embryonic development. Affected individuals may present with duplication of the lower spine, hindgut, urogenital structures, and lower limbs to varying degrees. The spectrum of anomalies can include duplication of the colon, rectum, bladder, urethra, and external genitalia

How is Caudal duplication inherited?

Caudal duplication follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Caudal duplication typically begin?

Typical onset of Caudal duplication is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Caudal duplication?

15 specialists and care centers treating Caudal duplication are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.