Overview
Alazami syndrome is a very rare genetic condition that primarily affects growth and brain development. It is sometimes also called LARP7-related primordial dwarfism or Alazami-Yuan syndrome. Children with this condition are noticeably shorter than their peers from early life, a pattern called primordial dwarfism, meaning the growth restriction begins before birth and continues afterward. In addition to short stature, most individuals with Alazami syndrome have intellectual disability that ranges from mild to severe, along with a distinctive facial appearance that may include a triangular face, prominent forehead, and deep-set eyes. The syndrome is caused by changes (mutations) in the LARP7 gene, which plays an important role in how cells process genetic information. Because this gene is involved in fundamental cell processes, its disruption affects multiple body systems. Some affected individuals may also have skeletal differences, delayed speech, and behavioral challenges. There is currently no cure for Alazami syndrome. Treatment focuses on managing symptoms and supporting development. This typically includes early intervention programs, speech therapy, occupational therapy, physical therapy, and special education services. Growth hormone therapy has been tried in some cases, but its effectiveness for this specific condition is not well established. Regular monitoring by a team of specialists helps ensure that children receive the support they need to reach their full potential.
Also known as:
Key symptoms:
Very short stature present from birth (primordial dwarfism)Intellectual disability (mild to severe)Delayed speech and language developmentSmall head size (microcephaly)Triangular-shaped faceProminent foreheadDeep-set eyesLow birth weightDelayed motor milestones like sitting and walkingThin body buildBehavioral difficultiesLearning difficultiesSkeletal abnormalitiesFeeding difficulties in infancy
Clinical phenotype terms (31)— 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 Alazami syndrome.
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Specialists
View all specialists →No specialists are currently listed for Alazami 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 Alazami syndrome.
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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 is the severity of my child's intellectual disability, and what therapies are recommended?,Should we consider growth hormone therapy, and what are the realistic expectations?,What early intervention services should we start, and how often?,Are there any other health complications we should screen for regularly?,What educational accommodations should we request at school?,Should other family members be tested to see if they are carriers?,Are there any clinical trials or research studies we could participate in?
Common questions about Alazami syndrome
What is Alazami syndrome?
Alazami syndrome is a very rare genetic condition that primarily affects growth and brain development. It is sometimes also called LARP7-related primordial dwarfism or Alazami-Yuan syndrome. Children with this condition are noticeably shorter than their peers from early life, a pattern called primordial dwarfism, meaning the growth restriction begins before birth and continues afterward. In addition to short stature, most individuals with Alazami syndrome have intellectual disability that ranges from mild to severe, along with a distinctive facial appearance that may include a triangular face,
How is Alazami syndrome inherited?
Alazami syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Alazami syndrome typically begin?
Typical onset of Alazami syndrome is neonatal. Age of onset can vary across affected individuals.