Overview
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type, is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: microcephaly (an unusually small head), distinctive facial features, heart defects, and skeletal abnormalities. This syndrome was first described by Dr. Hadziselimovic and is sometimes referred to simply as Hadziselimovic syndrome. Children born with this condition typically have a noticeably small head at birth, which reflects reduced brain growth. Facial features may include a prominent nose, small jaw, and other distinctive characteristics. Heart defects can range in severity and may require surgical intervention. Skeletal problems can include abnormalities of the spine, limbs, or other bones, which may affect growth and mobility. Because this syndrome is so rare, with only a handful of cases reported in the medical literature, there is limited information about the full range of symptoms and outcomes. Treatment is supportive and focuses on managing individual symptoms, such as cardiac surgery for heart defects, physical therapy for skeletal issues, and developmental support for intellectual challenges. A team of specialists is typically needed to provide comprehensive care.
Key symptoms:
Unusually small head (microcephaly)Intellectual disabilityDistinctive facial featuresHeart defects present at birthSkeletal abnormalitiesShort stature or growth delaySmall jaw (micrognathia)Prominent noseDevelopmental delaysLow-set earsLimb abnormalitiesFeeding difficulties in infancy
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 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type.
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 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type.
Community
No community posts yet. Be the first to share your experience with Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type.
Start the conversation →Latest news about Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
No recent news articles for Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type.
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 heart defects does my child have, and will they need surgery?,What developmental milestones should I watch for, and when should I be concerned?,Is genetic testing available to confirm the diagnosis and help with family planning?,What therapies should my child start, and how often?,Are there any specialists we should see that we haven't been referred to yet?,What emergency signs should I watch for at home?,Are there any research studies or registries we can participate in?
Common questions about Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
What is Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type?
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type, is an extremely rare genetic condition that affects multiple body systems. The name describes its main features: microcephaly (an unusually small head), distinctive facial features, heart defects, and skeletal abnormalities. This syndrome was first described by Dr. Hadziselimovic and is sometimes referred to simply as Hadziselimovic syndrome. Children born with this condition typically have a noticeably small head at birth, which reflects reduced brain growth. Facial features may include a prominent nose, small jaw, and other d
How is Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type inherited?
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type typically begin?
Typical onset of Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is neonatal. Age of onset can vary across affected individuals.