Overview
Autosomal dominant multiple pterygium syndrome (also called dominant multiple pterygium syndrome or Escobar syndrome variant in some older literature) is a rare condition present from birth that mainly affects the joints and skin. The word 'pterygium' means 'wing-like web,' and in this condition, thick bands or webs of skin form across joints — most often the neck, elbows, knees, and fingers. These webs can limit how far a joint can bend or straighten, which affects movement and daily activities. Beyond the skin webs, people with this condition may have other features including a short neck, drooping eyelids, low-set ears, a small jaw, and spine problems such as scoliosis. Some individuals have differences in how their fingers or toes are formed. The severity varies quite a bit from person to person, even within the same family. Treatment focuses on managing symptoms rather than curing the condition. Surgery can sometimes release the skin webs to improve joint movement. Physical therapy and occupational therapy help people maintain strength and function. A team of specialists — including orthopedic surgeons, geneticists, and physical therapists — typically works together to support each person's needs throughout their life.
Also known as:
Key symptoms:
Skin webs or bands across joints (especially neck, elbows, knees, and fingers)Limited joint movement due to webbingShort or webbed neckDrooping eyelids (ptosis)Low-set or abnormally shaped earsSmall or receding jaw (micrognathia)Curved spine (scoliosis)Short statureWebbed fingers or toes (syndactyly)Rocker-bottom feet or other foot differencesWidely spaced nipplesUndescended testicles in males
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
10 eventsUniversity Hospital, Rouen — PHASE2
Merck Sharp & Dohme LLC — PHASE3
Merck Sharp & Dohme LLC — PHASE2
University of Cologne — PHASE3
Invicro — EARLY_PHASE1
AstraZeneca — PHASE1
University Medical Centre Ljubljana — NA
BioNTech SE — PHASE1, PHASE2
Merck Sharp & Dohme LLC — PHASE3
Merck Sharp & Dohme LLC — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant multiple pterygium syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Autosomal dominant multiple pterygium syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Rare Disease Specialist
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 Autosomal dominant multiple pterygium syndrome.
Community
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Start the conversation →Latest news about Autosomal dominant multiple pterygium syndrome
Disease timeline:
New recruiting trial: Hypertension in Children and Young People at Risk of Autosomal Dominant Polycystic Kidney Disease
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
New recruiting trial: Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB)
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
New recruiting trial: Korean NIRS-IVUS Multicenter Registry
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
New recruiting trial: Metabolic Impacts of Ren-Nu: A Dietary Program for Polycystic Kidney Disease
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
New recruiting trial: Early PKD Observational Cohort Study
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
New recruiting trial: Tirelizumab in Combination With Carboplatin and Albumin-binding Paclitaxel for Neoadjuvant Therapy in HNSCC
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
New recruiting trial: Glucagon-Like Peptide-1 Receptor Agonist in ADPKD
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
New recruiting trial: Genetics in the Progression of Nephropathies
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
New recruiting trial: A Study of Sacituzumab Tirumotecan (MK-2870) as a Single Agent and in Combination With Pembrolizumab (MK-3475) Versus Treatment of Physician's Choice in Participants With HR+/HER2- Unresectable Locally Advanced or Metastatic Breast Cancer (MK-2870-010)
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
New recruiting trial: Alpha-synuclein Rt-quic and Neurologic Symptoms in Persons With idiOpathic anosMiA
A new clinical trial is recruiting patients for Autosomal dominant multiple pterygium syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Which joints are most affected in my case, and what does that mean for my movement long-term?,Should I have genetic testing, and should my family members be tested too?,Is surgery recommended for my joint webs, and what results can I realistically expect?,How often should I be monitored for spine problems like scoliosis?,What physical or occupational therapy would help me most right now?,Are there any clinical trials or research studies I could participate in?,Are there patient support groups or other families I could connect with?
Common questions about Autosomal dominant multiple pterygium syndrome
What is Autosomal dominant multiple pterygium syndrome?
Autosomal dominant multiple pterygium syndrome (also called dominant multiple pterygium syndrome or Escobar syndrome variant in some older literature) is a rare condition present from birth that mainly affects the joints and skin. The word 'pterygium' means 'wing-like web,' and in this condition, thick bands or webs of skin form across joints — most often the neck, elbows, knees, and fingers. These webs can limit how far a joint can bend or straighten, which affects movement and daily activities. Beyond the skin webs, people with this condition may have other features including a short neck,
How is Autosomal dominant multiple pterygium syndrome inherited?
Autosomal dominant multiple pterygium syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal dominant multiple pterygium syndrome typically begin?
Typical onset of Autosomal dominant multiple pterygium syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Autosomal dominant multiple pterygium syndrome?
25 specialists and care centers treating Autosomal dominant multiple pterygium syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.