What is Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome?
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is an extremely rare genetic condition that affects the development of the bones in the fingers, toes, and chest. The name describes its three main features: hyperphalangy (having extra small bones, called phalanges, in the fingers), abnormalities of the toes, and severe pectus excavatum (a condition where the breastbone sinks inward, creating a sunken or caved-in appearance of the chest). Because the extra bones in the fingers can affect how the joints move, people with this condition may notice stiffness or unusual shape in their fingers. The toe abnormalities can vary but may include unusual shape, length, or alignment of the toes. The chest wall deformity can range from mild to severe and, in more serious cases, may put pressure on the heart and lungs, potentially causing breathing difficulties or reduced exercise tolerance. Because this syndrome is so rare, there is very limited information about it in the medical literature. Treatment is generally focused on managing symptoms. Surgical correction may be considered for severe pectus excavatum, and orthopedic care can help address hand and foot abnormalities. A team of specialists is usually needed to provide the best care for affected individuals.
Key symptoms:
Extra small bones in the fingers (hyperphalangy)Stiff or unusually shaped fingersAbnormal shape or alignment of the toesSevere sunken chest (pectus excavatum)Possible breathing difficulties due to chest wall deformityReduced exercise tolerancePossible heart compression from chest deformityLimited finger joint movementUnusual toe length or positioning
- 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 Finger hyperphalangy-toe anomalies-severe pectus excavatum 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 Finger hyperphalangy-toe anomalies-severe pectus excavatum 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 Finger hyperphalangy-toe anomalies-severe pectus excavatum 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 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome.
Community
No community posts yet. Be the first to share your experience with Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome.
Start the conversation →Latest news about Finger hyperphalangy-toe anomalies-severe pectus excavatum 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 Finger hyperphalangy-toe anomalies-severe pectus excavatum 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.How severe is the pectus excavatum, and is it affecting my child's heart or lungs?,Are there any surgical options that could help with the chest deformity?,What can be done to improve finger and toe function?,Should we pursue genetic testing, and what might it tell us?,What specialists should be part of our care team?,Are there any activity restrictions we should follow?,What is the long-term outlook for someone with this condition?
Common questions about Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
What is Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome?
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is an extremely rare genetic condition that affects the development of the bones in the fingers, toes, and chest. The name describes its three main features: hyperphalangy (having extra small bones, called phalanges, in the fingers), abnormalities of the toes, and severe pectus excavatum (a condition where the breastbone sinks inward, creating a sunken or caved-in appearance of the chest). Because the extra bones in the fingers can affect how the joints move, people with this condition may notice stiffness or unusual shape in
At what age does Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome typically begin?
Typical onset of Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome?
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:369979). It is typically inherited as variable. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome page.
How is Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome inherited?
Finger hyperphalangy-toe anomalies-severe pectus excavatum 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 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome?
Approved treatments for Finger hyperphalangy-toe anomalies-severe pectus excavatum 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 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome?
Active clinical trials for Finger hyperphalangy-toe anomalies-severe pectus excavatum 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 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome?
Verified Finger hyperphalangy-toe anomalies-severe pectus excavatum 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 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome page for complete clinical details, sources, and verified-specialist listings.
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