Overview
"Syndrome or malformation associated with head and neck malformations" is a broad category used in medical classification systems (Orphanet code 156237) to group together a variety of rare conditions that involve structural abnormalities of the head and neck region. These malformations can affect the skull (cranium), face, jaw, ears, neck, and related structures. They may occur as isolated findings or as part of a larger syndrome that affects multiple body systems. The specific symptoms depend on which structures are involved. Some patients may have differences in the shape of the skull, underdeveloped jaw bones, cleft lip or palate, ear abnormalities, or neck anomalies such as cysts or extra skin folds. These malformations are typically present at birth and may be noticed during pregnancy on ultrasound or at delivery. In some cases, they can affect breathing, feeding, hearing, or vision. Treatment varies widely depending on the specific condition and its severity. Many patients benefit from surgical correction of structural abnormalities, speech therapy, hearing aids, and coordinated care from a team of specialists. Early intervention is important to support normal development. Because this is a grouping category rather than a single disease, patients should work with their medical team to identify the specific underlying diagnosis, which will guide more targeted treatment and genetic counseling.
Key symptoms:
Abnormal skull shapeUnderdeveloped or asymmetric jawCleft lip or cleft palateEar abnormalities or missing earsHearing lossDifficulty breathingDifficulty feeding in infancyNeck cysts or massesExtra skin folds on the neckFacial asymmetryWide-set or closely-set eyesSmall chinSpeech difficultiesDental abnormalitiesVision problems
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Syndrome or malformation associated with head and neck malformations.
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View all trials with filters →No actively recruiting trials found for Syndrome or malformation associated with head and neck malformations at this time.
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Specialists
View all specialists →No specialists are currently listed for Syndrome or malformation associated with head and neck malformations.
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 Syndrome or malformation associated with head and neck malformations.
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.What is the specific diagnosis, and does my child's condition have a name?,Is genetic testing recommended, and what might it tell us?,What surgeries or treatments will be needed, and when should they happen?,How will this condition affect my child's hearing, speech, and development?,Are there other organs or body systems we should check?,Is this condition inherited, and what is the chance it could happen again in future pregnancies?,Can you refer us to a specialized craniofacial team or center?
Common questions about Syndrome or malformation associated with head and neck malformations
What is Syndrome or malformation associated with head and neck malformations?
"Syndrome or malformation associated with head and neck malformations" is a broad category used in medical classification systems (Orphanet code 156237) to group together a variety of rare conditions that involve structural abnormalities of the head and neck region. These malformations can affect the skull (cranium), face, jaw, ears, neck, and related structures. They may occur as isolated findings or as part of a larger syndrome that affects multiple body systems. The specific symptoms depend on which structures are involved. Some patients may have differences in the shape of the skull, unde
At what age does Syndrome or malformation associated with head and neck malformations typically begin?
Typical onset of Syndrome or malformation associated with head and neck malformations is neonatal. Age of onset can vary across affected individuals.