Mirror polydactyly-vertebral segmentation-limbs defects syndrome

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Overview

Mirror polydactyly-vertebral segmentation-limbs defects syndrome (also known as Laurin-Sandrow syndrome or mirror hands and feet with nasal defects) is an extremely rare congenital malformation syndrome characterized by a distinctive combination of limb and skeletal anomalies. The hallmark feature is mirror polydactyly, in which the hands and/or feet display a symmetrical duplication pattern with extra digits arranged in a mirror-image configuration, often with absence of the thumb or great toe and duplication of the ulnar or fibular rays. Affected individuals also exhibit vertebral segmentation defects, which may include hemivertebrae, fused vertebrae, or other anomalies of the spinal column. Additional limb defects can include tibial or fibular abnormalities, and nasal anomalies such as a bifid or hypoplastic nose have been reported in some cases. The musculoskeletal system is primarily affected, though craniofacial features may also be involved. The condition is present at birth and is typically identified during the neonatal period or prenatally through ultrasound imaging. The syndrome is exceedingly rare, with only a small number of cases described in the medical literature. Management is primarily supportive and surgical, focusing on orthopedic correction of limb anomalies to improve function and appearance. Surgical removal of extra digits, correction of foot deformities, and spinal management may be required depending on the severity of the skeletal involvement. Genetic counseling is recommended for affected families. There is no cure, and treatment is directed at the specific symptoms present in each individual.

Clinical phenotype terms— hover any for plain English:

Foot polydactylyHP:0001829Duodenal atresiaHP:0002247Aplasia of the thymusHP:0005359PhocomeliaHP:0009829
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Mirror polydactyly-vertebral segmentation-limbs defects syndrome.

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No actively recruiting trials found for Mirror polydactyly-vertebral segmentation-limbs defects syndrome at this time.

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No specialists are currently listed for Mirror polydactyly-vertebral segmentation-limbs defects syndrome.

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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 Mirror polydactyly-vertebral segmentation-limbs defects syndrome.

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Community

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Caregiver Resources

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Common questions about Mirror polydactyly-vertebral segmentation-limbs defects syndrome

What is Mirror polydactyly-vertebral segmentation-limbs defects syndrome?

Mirror polydactyly-vertebral segmentation-limbs defects syndrome (also known as Laurin-Sandrow syndrome or mirror hands and feet with nasal defects) is an extremely rare congenital malformation syndrome characterized by a distinctive combination of limb and skeletal anomalies. The hallmark feature is mirror polydactyly, in which the hands and/or feet display a symmetrical duplication pattern with extra digits arranged in a mirror-image configuration, often with absence of the thumb or great toe and duplication of the ulnar or fibular rays. Affected individuals also exhibit vertebral segmentati

How is Mirror polydactyly-vertebral segmentation-limbs defects syndrome inherited?

Mirror polydactyly-vertebral segmentation-limbs defects syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Mirror polydactyly-vertebral segmentation-limbs defects syndrome typically begin?

Typical onset of Mirror polydactyly-vertebral segmentation-limbs defects syndrome is neonatal. Age of onset can vary across affected individuals.