Brachytelephalangic chondrodysplasia punctata

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ORPHA:79345OMIM:302950Q77.3
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8Treatment centers

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

Clinical phenotype terms— hover any for plain English:

Butterfly vertebraeHP:0003316C1-C2 subluxationHP:0003320Spinal canal stenosisHP:0003416Coronal cleft vertebraeHP:0003417Atlantoaxial instabilityHP:0003467Calcaneal epiphyseal stipplingHP:0004695Respiratory failure requiring assisted ventilationHP:0004887Vertebral hypoplasiaHP:0008417Hypoplastic cervical vertebraeHP:0008434Cervical spinal canal stenosisHP:0008445Cervical vertebral dysplasiaHP:0008469Laryngeal calcificationHP:0008754Abnormal ossification involving the femoral head and neckHP:0009107Thick nasal alaeHP:0009928Epiphyseal stippling of toe phalangesHP:0010171Stippling of the epiphyses of the distal phalanges of the handHP:0010255Cervical spine instabilityHP:0010646Abnormal bronchus morphologyHP:0025426Abnormal hyoid bone morphologyHP:3000052
Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Brachytelephalangic chondrodysplasia punctata.

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Clinical Trials

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No actively recruiting trials found for Brachytelephalangic chondrodysplasia punctata at this time.

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Specialists

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No specialists are currently listed for Brachytelephalangic chondrodysplasia punctata.

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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 Brachytelephalangic chondrodysplasia punctata.

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Community

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Latest news about Brachytelephalangic chondrodysplasia punctata

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Caregiver Resources

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