What is OBSOLETE: Peripheral dysostosis?
Peripheral dysostosis is a rare skeletal condition that primarily affects the bones of the hands and feet, and sometimes other parts of the skeleton. The term 'peripheral dysostosis' has been marked as obsolete in medical classification systems, meaning it is no longer used as a standalone diagnosis in current medical practice. Instead, the features once grouped under this name are now typically classified under more specific diagnoses. The condition was historically described as involving shortening and abnormal shaping of the bones in the fingers and toes (called phalanges and metacarpals), which could lead to unusually short fingers or toes. Some patients also had mild facial features or other subtle skeletal differences. Because this term is now considered outdated, patients who were previously given this diagnosis may benefit from a modern genetic re-evaluation to determine a more precise diagnosis. Conditions that overlap with what was once called peripheral dysostosis include acrodysostosis, brachydactyly syndromes, and certain forms of pseudohypoparathyroidism. Treatment has generally been supportive, focusing on managing any functional limitations of the hands or feet and monitoring for associated health issues. Genetic counseling is recommended for affected families to better understand the specific underlying cause and recurrence risk.
Key symptoms:
Short fingers or toesAbnormally shaped hand bonesShortened bones in the feetShort stature or mildly reduced heightRounded or broad fingertipsLimited range of motion in finger jointsMild facial differences such as a flat nasal bridgeCone-shaped ends of finger bones seen on X-rayDelayed bone maturation in some cases
- Inheritance
- Autosomal dominant
- Passed on from just one parent; each child has about a 50% chance of inheriting it
- Age of Onset
- Childhood
- Begins in childhood, roughly ages 1 to 12
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for OBSOLETE: Peripheral dysostosis.
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 OBSOLETE: Peripheral dysostosis 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 OBSOLETE: Peripheral dysostosis.
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 OBSOLETE: Peripheral dysostosis.
Community
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Start the conversation →Latest news about OBSOLETE: Peripheral dysostosis
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 OBSOLETE: Peripheral dysostosis.
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.Is 'peripheral dysostosis' still the best diagnosis, or should we pursue updated genetic testing?,What specific genetic condition might explain my or my child's symptoms?,Would occupational therapy help improve hand function?,Are there any hormonal or metabolic conditions we should test for?,Should other family members be evaluated or tested?,What specialists should be part of our ongoing care team?,Are there any clinical trials or research studies we could participate in?
Common questions about OBSOLETE: Peripheral dysostosis
What is OBSOLETE: Peripheral dysostosis?
Peripheral dysostosis is a rare skeletal condition that primarily affects the bones of the hands and feet, and sometimes other parts of the skeleton. The term 'peripheral dysostosis' has been marked as obsolete in medical classification systems, meaning it is no longer used as a standalone diagnosis in current medical practice. Instead, the features once grouped under this name are now typically classified under more specific diagnoses. The condition was historically described as involving shortening and abnormal shaping of the bones in the fingers and toes (called phalanges and metacarpals),
How is OBSOLETE: Peripheral dysostosis inherited?
OBSOLETE: Peripheral dysostosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Peripheral dysostosis typically begin?
Typical onset of OBSOLETE: Peripheral dysostosis is childhood. Age of onset can vary across affected individuals.
Frequently asked questions about OBSOLETE: Peripheral dysostosis
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is OBSOLETE: Peripheral dysostosis?
OBSOLETE: Peripheral dysostosis is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:1795). It is typically inherited as autosomal dominant. Age of onset is generally childhood. For verified primary sources, see the UniteRare OBSOLETE: Peripheral dysostosis page.
How is OBSOLETE: Peripheral dysostosis inherited?
OBSOLETE: Peripheral dysostosis follows autosomal dominant 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 OBSOLETE: Peripheral dysostosis?
Approved treatments for OBSOLETE: Peripheral dysostosis 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 OBSOLETE: Peripheral dysostosis?
Active clinical trials for OBSOLETE: Peripheral dysostosis 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 OBSOLETE: Peripheral dysostosis?
Verified OBSOLETE: Peripheral dysostosis 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 OBSOLETE: Peripheral dysostosis page for complete clinical details, sources, and verified-specialist listings.
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