Craniofacial Abnormalities

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Basics

• Summary
• Treatments and Therapies

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• Related Issues
• Specifics
• Genetics

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Research

• Clinical Trials
• Journal Articles

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Summary

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.

Treatments and Therapies

• Craniofacial reconstruction - slideshow (Medical Encyclopedia) Also in Spanish

Related Issues

• Baby's Head Shape: What's Normal? (Mayo Foundation for Medical Education and Research) Also in Spanish

Specifics

• Coffin Lowry Syndrome (National Institute of Neurological Disorders and Stroke)
• Craniosynostosis (Mayo Foundation for Medical Education and Research)
• Craniosynostosis (National Institute of Neurological Disorders and Stroke)
• Flat Head Syndrome (Positional Plagiocephaly) (Nemours Foundation) Also in Spanish
• Guide to Understanding Apert Syndrome (Children's Craniofacial Association) - PDF
• Guide to Understanding Hemifacial Microsomia (Children's Craniofacial Association) - PDF
• Guide to Understanding Pfeiffer Syndrome (Children's Craniofacial Association) - PDF
• Holoprosencephaly (National Institute of Neurological Disorders and Stroke)
• Information about Treacher Collins Syndrome (Mandibulofacial Dysostosis) (Cleft Palate Foundation)
• Learning about Holoprosencephaly (HPE) (National Human Genome Research Institute)
• Noonan Syndrome: Symptoms and Causes (Mayo Foundation for Medical Education and Research)
• Sotos Syndrome (National Institute of Neurological Disorders and Stroke)
• What Is Treacher Collins Syndrome? (for Parents) (Nemours Foundation)

Genetics

• 3MC syndrome: MedlinePlus Genetics (National Library of Medicine)
• Aarskog-Scott syndrome: MedlinePlus Genetics (National Library of Medicine)
• Acrocallosal syndrome: MedlinePlus Genetics (National Library of Medicine)
• Apert syndrome: MedlinePlus Genetics (National Library of Medicine)
• Baller-Gerold syndrome: MedlinePlus Genetics (National Library of Medicine)
• Beare-Stevenson cutis gyrata syndrome: MedlinePlus Genetics (National Library of Medicine)
• Blepharocheilodontic syndrome: MedlinePlus Genetics (National Library of Medicine)
• Bohring-Opitz syndrome: MedlinePlus Genetics (National Library of Medicine)
• Bosma arhinia microphthalmia syndrome: MedlinePlus Genetics (National Library of Medicine)
• Bowen-Conradi syndrome: MedlinePlus Genetics (National Library of Medicine)
• Branchio-oculo-facial syndrome: MedlinePlus Genetics (National Library of Medicine)
• Burn-McKeown syndrome: MedlinePlus Genetics (National Library of Medicine)
• Cardiofaciocutaneous syndrome: MedlinePlus Genetics (National Library of Medicine)
• Carpenter syndrome: MedlinePlus Genetics (National Library of Medicine)
• Cerebro-facio-thoracic dysplasia: MedlinePlus Genetics (National Library of Medicine)
• Cherubism: MedlinePlus Genetics (National Library of Medicine)
• Cleidocranial dysplasia: MedlinePlus Genetics (National Library of Medicine)
• Craniofacial microsomia: MedlinePlus Genetics (National Library of Medicine)
• Craniofrontonasal syndrome: MedlinePlus Genetics (National Library of Medicine)
• Craniometaphyseal dysplasia: MedlinePlus Genetics (National Library of Medicine)
• Crouzon syndrome with acanthosis nigricans: MedlinePlus Genetics (National Library of Medicine)
• Crouzon syndrome: MedlinePlus Genetics (National Library of Medicine)
• Enlarged parietal foramina: MedlinePlus Genetics (National Library of Medicine)
• Frontonasal dysplasia: MedlinePlus Genetics (National Library of Medicine)
• Gorlin-Chaudhry-Moss syndrome: MedlinePlus Genetics (National Library of Medicine)
• Greig cephalopolysyndactyly syndrome: MedlinePlus Genetics (National Library of Medicine)
• Hartsfield syndrome: MedlinePlus Genetics (National Library of Medicine)
• Isolated Pierre Robin sequence: MedlinePlus Genetics (National Library of Medicine)
• Jackson-Weiss syndrome: MedlinePlus Genetics (National Library of Medicine)
• Mandibulofacial dysostosis with microcephaly: MedlinePlus Genetics (National Library of Medicine)
• Miller syndrome: MedlinePlus Genetics (National Library of Medicine)
• Muenke syndrome: MedlinePlus Genetics (National Library of Medicine)
• Nager syndrome: MedlinePlus Genetics (National Library of Medicine)
• Oral-facial-digital syndrome: MedlinePlus Genetics (National Library of Medicine)
• Pfeiffer syndrome: MedlinePlus Genetics (National Library of Medicine)
• Robinow syndrome: MedlinePlus Genetics (National Library of Medicine)
• Saethre-Chotzen syndrome: MedlinePlus Genetics (National Library of Medicine)
• Shprintzen-Goldberg syndrome: MedlinePlus Genetics (National Library of Medicine)
• Sotos syndrome: MedlinePlus Genetics (National Library of Medicine)
• Thanatophoric dysplasia: MedlinePlus Genetics (National Library of Medicine)
• Treacher Collins syndrome: MedlinePlus Genetics (National Library of Medicine)
• Weaver syndrome: MedlinePlus Genetics (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Craniofacial Abnormalities (National Institutes of Health)
• ClinicalTrials.gov: Craniosynostoses (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

• Article: An ever-changing landscape in Roberts syndrome biology: Implications for macromolecular damage.
• Article: Generation of an iPSC line (UMGWi001-B) from a patient with Floating-Harbor...
• Article: Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without...
• Craniofacial Abnormalities -- see more articles

Find an Expert

• American Academy of Facial Plastic and Reconstructive Surgery
• National Institute of Dental and Craniofacial Research Also in Spanish

Patient Handouts

• Apert syndrome (Medical Encyclopedia) Also in Spanish
• Cleidocranial dysostosis (Medical Encyclopedia) Also in Spanish
• Craniosynostosis (Medical Encyclopedia) Also in Spanish
• Craniosynostosis repair (Medical Encyclopedia) Also in Spanish
• Head and face reconstruction (Medical Encyclopedia) Also in Spanish
• Pierre Robin syndrome (Medical Encyclopedia) Also in Spanish