Overview
Eng-Strom syndrome is an extremely rare genetic condition that affects multiple body systems. It is also sometimes referred to as craniodiaphyseal dysplasia or grouped under skeletal dysplasias with craniofacial involvement. The syndrome is characterized by abnormal bone growth, particularly affecting the skull and long bones. Patients typically show thickening and overgrowth (sclerosis) of the skull bones, which can lead to a distinctive facial appearance with a wide nasal bridge, widely spaced eyes, and a prominent forehead. The overgrowth of skull bones can compress cranial nerves, potentially causing hearing loss, vision problems, and facial nerve paralysis. The condition is present from birth or early childhood and tends to progress over time. Bone overgrowth in the skull can narrow the passages through which nerves and blood vessels travel, leading to increasing neurological complications. Some patients may also experience breathing difficulties due to narrowing of the nasal passages. Treatment is primarily supportive and symptomatic. Surgery may be needed to relieve pressure on nerves caused by bone overgrowth, and hearing aids or other assistive devices may help with sensory deficits. There is currently no cure or disease-modifying therapy available. Management requires a multidisciplinary team approach involving craniofacial surgeons, neurologists, and other specialists to address the various complications that can arise as the disease progresses.
Also known as:
Key symptoms:
Thickening of skull bonesWide nasal bridgeWidely spaced eyesProminent foreheadHearing lossVision problemsFacial nerve weakness or paralysisNasal congestion or breathing difficulty through the noseAbnormal facial appearanceBone overgrowth in long bonesHeadachesDental abnormalitiesShort stature
Clinical phenotype terms (9)— 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 Eng-Strom syndrome.
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Specialists
View all specialists →No specialists are currently listed for Eng-Strom 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 Eng-Strom syndrome.
Community
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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.How severe is the bone overgrowth in my child's case, and what complications should we watch for?,How often should hearing and vision be tested?,Are there any surgical options that could help prevent nerve damage?,What signs of an emergency should I watch for at home?,Is genetic testing available to confirm the diagnosis and help with family planning?,Are there any clinical trials or research studies we could participate in?,What educational or developmental support services should we look into?
Common questions about Eng-Strom syndrome
What is Eng-Strom syndrome?
Eng-Strom syndrome is an extremely rare genetic condition that affects multiple body systems. It is also sometimes referred to as craniodiaphyseal dysplasia or grouped under skeletal dysplasias with craniofacial involvement. The syndrome is characterized by abnormal bone growth, particularly affecting the skull and long bones. Patients typically show thickening and overgrowth (sclerosis) of the skull bones, which can lead to a distinctive facial appearance with a wide nasal bridge, widely spaced eyes, and a prominent forehead. The overgrowth of skull bones can compress cranial nerves, potentia
How is Eng-Strom syndrome inherited?
Eng-Strom syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Eng-Strom syndrome typically begin?
Typical onset of Eng-Strom syndrome is neonatal. Age of onset can vary across affected individuals.