Overview
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome (also known as Simosa syndrome or Simosa-Penchaszadeh-Bustos syndrome) is an extremely rare genetic condition that affects several parts of the body. It was first described in a small number of patients and is characterized by a combination of distinctive features present from birth or early childhood. The main features include delayed speech development, asymmetry of the face (where one side of the face looks slightly different from the other), strabismus (crossed eyes or eyes that do not align properly), and unusual creases or folds on the ear lobes. Some affected individuals may also have mild intellectual challenges and other minor physical differences. Because this syndrome is so rare, there is limited information about its full range of symptoms and long-term outcomes. There is currently no specific cure for this condition. Treatment focuses on managing individual symptoms, such as speech therapy for language delays, corrective measures for eye alignment problems, and supportive therapies to help with development. A team of specialists typically works together to address the various needs of affected individuals. Early intervention, particularly for speech and developmental delays, is considered important for achieving the best possible outcomes.
Also known as:
Key symptoms:
Delayed speech and language developmentFacial asymmetry (one side of the face looks different from the other)Crossed eyes or misaligned eyes (strabismus)Creases or folds on the ear lobesShort stature or growth delaysMild intellectual disability or learning difficultiesLow-set or unusually shaped earsBroad or flat nasal bridgeMild developmental delaysPossible hearing difficulties
Clinical phenotype terms (14)— 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 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Delayed speech-facial asymmetry-strabismus-ear lobe creases 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 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome.
Community
No community posts yet. Be the first to share your experience with Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome.
Start the conversation →Latest news about Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
No recent news articles for Delayed speech-facial asymmetry-strabismus-ear lobe creases 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 therapies do you recommend for my child's speech delay, and how often should they occur?,Does my child's strabismus need surgical correction, or can it be managed with glasses or patching?,Should we pursue genetic testing, and what might the results tell us?,What developmental milestones should I be watching for, and when should I be concerned?,Are there any hearing tests we should do to make sure hearing loss is not contributing to the speech delay?,What educational supports or early intervention programs are available for my child?,Is there a risk that future children could also be affected, and should we see a genetic counselor?
Common questions about Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
What is Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome?
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome (also known as Simosa syndrome or Simosa-Penchaszadeh-Bustos syndrome) is an extremely rare genetic condition that affects several parts of the body. It was first described in a small number of patients and is characterized by a combination of distinctive features present from birth or early childhood. The main features include delayed speech development, asymmetry of the face (where one side of the face looks slightly different from the other), strabismus (crossed eyes or eyes that do not align properly), and unusual creases
How is Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome inherited?
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome typically begin?
Typical onset of Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome is neonatal. Age of onset can vary across affected individuals.