Overview
Conductive deafness-ptosis-skeletal anomalies syndrome, also known as Dundar syndrome or Schwartz-Lelek syndrome (depending on the specific variant described), is an extremely rare genetic condition that affects several parts of the body at the same time. The hallmark features include conductive hearing loss (where sound has trouble passing through the outer or middle ear), ptosis (drooping of the upper eyelids), and various skeletal abnormalities. The skeletal problems can include short stature, abnormalities of the fingers and toes, and changes in the bones of the face and skull. Because this syndrome affects multiple body systems, patients may notice a combination of hearing difficulties, a distinctive facial appearance with droopy eyelids, and bone or joint problems from early in life. The condition is typically present at birth or becomes apparent during infancy and early childhood. There is currently no cure for this syndrome. Treatment focuses on managing individual symptoms. Hearing aids or surgery may help with conductive hearing loss. Surgical correction of ptosis can improve vision and appearance. Orthopedic care may be needed for skeletal problems. A team of specialists working together provides the best outcomes for affected individuals. Because the condition is so rare, much of the medical knowledge comes from a small number of reported cases in the medical literature.
Key symptoms:
Conductive hearing loss (difficulty hearing due to problems in the outer or middle ear)Drooping eyelids (ptosis)Short statureAbnormalities of the fingers or toesUnusual facial featuresSkeletal abnormalities of the spine or limbsBroad or flat nasal bridgeJoint stiffness or limited range of motionDental abnormalitiesSkin abnormalitiesDelayed motor development
Clinical phenotype terms (16)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Conductive deafness-ptosis-skeletal anomalies syndrome.
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Specialists
View all specialists →No specialists are currently listed for Conductive deafness-ptosis-skeletal anomalies 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 Conductive deafness-ptosis-skeletal anomalies syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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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.What type of hearing loss does my child have, and what are the best options to improve it?,Does the ptosis need surgical correction, and if so, when is the best time?,What skeletal abnormalities should we monitor for as my child grows?,Are there genetic tests that can confirm this diagnosis or identify the specific gene involved?,Should other family members be tested?,What therapies (speech, physical, occupational) would benefit my child?,How often should we schedule follow-up visits with each specialist?
Common questions about Conductive deafness-ptosis-skeletal anomalies syndrome
What is Conductive deafness-ptosis-skeletal anomalies syndrome?
Conductive deafness-ptosis-skeletal anomalies syndrome, also known as Dundar syndrome or Schwartz-Lelek syndrome (depending on the specific variant described), is an extremely rare genetic condition that affects several parts of the body at the same time. The hallmark features include conductive hearing loss (where sound has trouble passing through the outer or middle ear), ptosis (drooping of the upper eyelids), and various skeletal abnormalities. The skeletal problems can include short stature, abnormalities of the fingers and toes, and changes in the bones of the face and skull. Because th
How is Conductive deafness-ptosis-skeletal anomalies syndrome inherited?
Conductive deafness-ptosis-skeletal anomalies syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Conductive deafness-ptosis-skeletal anomalies syndrome typically begin?
Typical onset of Conductive deafness-ptosis-skeletal anomalies syndrome is neonatal. Age of onset can vary across affected individuals.