Overview
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is an extremely rare condition that has been described in medical literature but is now classified as obsolete in disease databases, meaning it may have been reclassified or merged with another condition over time. The syndrome was originally described as a combination of limb malformations (phocomelia, where the hands or feet attach close to the body with shortened or absent long bones of the limbs, and ectrodactyly, where fingers or toes are missing or fused giving a split-hand or split-foot appearance), hearing loss (deafness), and an irregular heart rhythm known as sinus arrhythmia. These features are present from birth. Because this condition is so rare and now considered obsolete in classification systems, very little is known about its underlying cause, and there is no established standard treatment. Management would typically focus on addressing each symptom individually — for example, hearing aids or cochlear implants for deafness, orthopedic interventions for limb differences, and cardiac monitoring for the heart rhythm abnormality. Patients and families should work closely with a team of specialists to manage the various aspects of this syndrome.
Also known as:
Key symptoms:
Shortened or absent arm or leg bones (phocomelia)Missing or fused fingers or toes (split hand or split foot)Hearing loss or deafnessIrregular heart rhythm (sinus arrhythmia)Limb length differencesDifficulty with fine motor tasks due to hand differencesPossible difficulty with balance or coordination
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome.
Start the conversation →Latest news about OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
No recent news articles for OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome.
Follow this condition to be notified when news becomes available.
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.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the severity of my child's limb differences, and what surgical or prosthetic options are available?,What type of hearing loss does my child have, and what is the best hearing device option?,How serious is the sinus arrhythmia, and how often should the heart be monitored?,Should we pursue genetic testing to look for an underlying cause?,What early intervention therapies should we start, and how soon?,Are there any activity restrictions due to the heart rhythm abnormality?,Is there a risk of this condition occurring again in future pregnancies?
Common questions about OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
What is OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome?
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is an extremely rare condition that has been described in medical literature but is now classified as obsolete in disease databases, meaning it may have been reclassified or merged with another condition over time. The syndrome was originally described as a combination of limb malformations (phocomelia, where the hands or feet attach close to the body with shortened or absent long bones of the limbs, and ectrodactyly, where fingers or toes are missing or fused giving a split-hand or split-foot appearance), hearing loss (deafness), and
At what age does OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome typically begin?
Typical onset of OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is neonatal. Age of onset can vary across affected individuals.