Important: This page is general information, not medical advice. It does not recommend or prescribe any treatment. Always consult your doctor or pharmacist before starting, stopping or changing any medicine.
About Craniofacial Abnormalities
Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body.
Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.
It sits within Bones, Joints and Muscles, Brain and Nerves and Genetics/Birth Defects.
When to speak to someone. Reading about a topic cannot tell you whether it applies to you. Speak to a doctor or pharmacist if symptoms are severe, sudden, getting worse, or simply not going away — and seek emergency care immediately for chest pain, breathing difficulty, sudden weakness or confusion, or a serious allergic reaction.
Research on Craniofacial Abnormalities
556 studies areregistered for this condition on ClinicalTrials.gov, the U.S. National Library of Medicine's public registry. A selection is below — the links go straight to the registry entry, not to a summary of ours.
What a registered study does and does not mean. Registration means a study exists and has been declared publicly. It says nothing about whether the treatment being tested works, is safe, or is available to you. Many studies find no benefit — that is what research is for. Never seek out an experimental treatment on the strength of a registry entry alone.
Research currently under way
- Clinical Genetics Branch Eligibility Screening SurveyNational Cancer Institute (NCI)
- Safety and Anti-Tumor Activity of TYRA-200 in Advanced Cholangiocarcinoma With Activating FGFR2 Gene AlterationsTyra Biosciences, Inc
- Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion SyndromeAlbert Einstein College of Medicine
- Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient DisordersAscendis Pharma A/S
- Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental DisordersHolland Bloorview Kids Rehabilitation Hospital
- Comparative Evaluation of Functional and Aesthetic Outcomes of Box and Mini-Wing Genioplasty TechniquesIstanbul Medipol University Hospital
Research already completed
- Description of Pain in Pediatric Patients With Cleft Lip and Palate Undergoing Alveolar Grafting Using Two Surgical Strategies: Stem Cells and Autogenous Iliac Crest Bone (Pain Evaluation in Children Undergoing Alveolar Grafting: Stem Cells vs. Iliac Crest Bone)Hospital Sirio-Libanes
- Study of Smith-Lemli-Opitz SyndromeEunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
- Study on Moebius Syndrome and Congenital Facial Weakness DisordersNational Human Genome Research Institute (NHGRI)
- Monitoring System for Cranial OrthosesUniversity of Texas Southwestern Medical Center
- A Study of E7090 as Monotherapy and in Combination With Other Anticancer Agents in Participants With Estrogen Receptor Positive (ER+) and Human Epidermal Growth Receptor 2 Negative (HER2-) Recurrent/Metastatic Breast CancerEisai Co., Ltd.
Study data from ClinicalTrials.gov, a service of the U.S. National Library of Medicine. Retrieved 2026-07-30. Registry entries are supplied by study sponsors and investigators; ClinicalTrials.gov does not verify their scientific validity. PocketsInfo is not affiliated with, and not endorsed by, the NLM or the NIH.
Where to read more
Rather than paraphrase, we point you to the primary sources. Every link below is to a government health agency, a national institute or a recognised medical body — grouped by what you are trying to find out.
Treatments and Therapies
- About Care TeamsAmerican Cleft Palate-Craniofacial Association
- Craniofacial reconstruction - seriesMedical Encyclopedia
Related Issues
- Baby's Head Shape: Cause for Concern?Mayo Foundation for Medical Education and Research
Genetics
- 3MC syndrome: MedlinePlus GeneticsNational Library of Medicine
- Aarskog-Scott syndrome: MedlinePlus GeneticsNational Library of Medicine
- Acrocallosal syndrome: MedlinePlus GeneticsNational Library of Medicine
- Apert syndrome: MedlinePlus GeneticsNational Library of Medicine
- Baller-Gerold syndrome: MedlinePlus GeneticsNational Library of Medicine
- Beare-Stevenson cutis gyrata syndrome: MedlinePlus GeneticsNational Library of Medicine
- Blepharocheilodontic syndrome: MedlinePlus GeneticsNational Library of Medicine
- Bohring-Opitz syndrome: MedlinePlus GeneticsNational Library of Medicine
- Bosma arhinia microphthalmia syndrome: MedlinePlus GeneticsNational Library of Medicine
- Bowen-Conradi syndrome: MedlinePlus GeneticsNational Library of Medicine
- Branchio-oculo-facial syndrome: MedlinePlus GeneticsNational Library of Medicine
- Burn-McKeown syndrome: MedlinePlus GeneticsNational Library of Medicine
- Cardiofaciocutaneous syndrome: MedlinePlus GeneticsNational Library of Medicine
- Carpenter syndrome: MedlinePlus GeneticsNational Library of Medicine
- Cerebro-facio-thoracic dysplasia: MedlinePlus GeneticsNational Library of Medicine
- Cherubism: MedlinePlus GeneticsNational Library of Medicine
- Cleidocranial dysplasia: MedlinePlus GeneticsNational Library of Medicine
- Craniofacial microsomia: MedlinePlus GeneticsNational Library of Medicine
- Craniofrontonasal syndrome: MedlinePlus GeneticsNational Library of Medicine
Clinical Trials
- ClinicalTrials.gov: Craniofacial AbnormalitiesNational Institutes of Health
- ClinicalTrials.gov: CraniosynostosesNational Institutes of Health
Medical subject headings
Clinicians and researchers index this subject under Craniofacial Abnormalities. These are the terms to use when searching medical literature.
This page is built from the MedlinePlus health topic record for Craniofacial Abnormalities, a service of the U.S. National Library of Medicine (NLM), National Institutes of Health. Information is from MedlinePlus.gov. PocketsInfo is not affiliated with, and is not endorsed by, the NLM or the NIH. Retrieved 30 July 2026.