What is Upper limb defect-eye and ear abnormalities syndrome?
Upper limb defect-eye and ear abnormalities syndrome does not yet have FDA-approved treatments tracked on UniteRare.
Key symptoms:
Missing, shortened, or underdeveloped fingers or handsShortened or malformed forearms or armsSmall or abnormally shaped eyesVision problems or reduced visionAbnormally shaped outer earsHearing loss (partial or complete)Structural problems inside the earDifferences in how the wrist or elbow is formedPossible difficulty with fine motor tasks due to hand differences
Clinical phenotype terms (12)— hover any for plain English
- Abnormal antihelix morphologyHP:0009738
- Hypoplasia of the antihelixHP:0009739
- Inheritance
- Variable
- Can be inherited in different ways depending on the underlying gene
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Upper limb defect-eye and ear abnormalities syndrome.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Upper limb defect-eye and ear abnormalities syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Upper limb defect-eye and ear abnormalities syndrome.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Upper limb defect-eye and ear abnormalities syndrome.
Community
No community posts yet. Be the first to share your experience with Upper limb defect-eye and ear abnormalities syndrome.
Start the conversation →Latest news about Upper limb defect-eye and ear abnormalities syndrome
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for Upper limb defect-eye and ear abnormalities 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 specific tests do you recommend to find out if there is a genetic cause for my child's condition?,Which specialists should be part of my child's care team, and how often should we see each one?,What are the best options for managing my child's limb differences, and when should we consider surgery?,How will hearing loss affect my child's speech and language development, and what therapies are available?,Are there any clinical trials or research studies we could participate in?,What school or early intervention services should we apply for right away?,What should I watch for as my child grows that might need new or different treatment?
Common questions about Upper limb defect-eye and ear abnormalities syndrome
What is Upper limb defect-eye and ear abnormalities syndrome?
Upper limb defect-eye and ear abnormalities syndrome (also sometimes referred to by its Orphanet code ORPHA:2489) is a very rare condition present from birth that affects the development of the arms and hands, the eyes, and the ears all at the same time. Because these three body systems are affected together, doctors call it a 'syndrome.' The exact features can vary from person to person, but the core problems involve differences in how the upper limbs (arms, forearms, wrists, or hands) are formed, along with structural or functional problems with the eyes and ears. People with this syndrome
At what age does Upper limb defect-eye and ear abnormalities syndrome typically begin?
Typical onset of Upper limb defect-eye and ear abnormalities syndrome is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Upper limb defect-eye and ear abnormalities syndrome
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Upper limb defect-eye and ear abnormalities syndrome?
Upper limb defect-eye and ear abnormalities syndrome is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:2489, OMIM 274205). It is typically inherited as variable. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Upper limb defect-eye and ear abnormalities syndrome page.
How is Upper limb defect-eye and ear abnormalities syndrome inherited?
Upper limb defect-eye and ear abnormalities syndrome follows variable inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Upper limb defect-eye and ear abnormalities syndrome?
Approved treatments for Upper limb defect-eye and ear abnormalities syndrome are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Upper limb defect-eye and ear abnormalities syndrome?
Active clinical trials for Upper limb defect-eye and ear abnormalities syndrome are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Upper limb defect-eye and ear abnormalities syndrome?
Verified Upper limb defect-eye and ear abnormalities syndrome specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Upper limb defect-eye and ear abnormalities syndrome page for complete clinical details, sources, and verified-specialist listings.
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