Craniofacial Abnormalities

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.

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

Find an Expert

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

Patient Handouts

• Apert syndrome Medical Encyclopedia
• Cleidocranial dysostosis Medical Encyclopedia
• Craniosynostosis Medical Encyclopedia
• Craniosynostosis repair Medical Encyclopedia
• Head and face reconstruction Medical Encyclopedia
• Pierre Robin syndrome Medical Encyclopedia

Related Issues

• Baby’s Head Shape: What’s Normal? Mayo Foundation for Medical Education and Research

Clinical Trials

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

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
• Goldenhar Syndrome (For Parents) Nemours Foundation
• Guide to Understanding Apert Syndrome Children’s Craniofacial Association
• Guide to Understanding Pfeiffer Syndrome Children’s Craniofacial Association
• Hemifacial Microsomia National Institute of Dental and Craniofacial Research
• 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 Mayo Foundation for Medical Education and Research
• Sotos Syndrome National Institute of Neurological Disorders and Stroke
• Treacher Collins Syndrome Nemours Foundation

Treatments and Therapies

• Craniofacial reconstruction – series — Normal anatomy Medical Encyclopedia

Encyclopedia

• Craniosynostosis repair – discharge Medical Encyclopedia
• Increased head circumference Medical Encyclopedia
• Metopic ridge Medical Encyclopedia
• Micrognathia Medical Encyclopedia
• Noonan syndrome Medical Encyclopedia
• Prognathism Medical Encyclopedia
• Short philtrum Medical Encyclopedia
• Skull x-ray Medical Encyclopedia
• Sutures – ridged Medical Encyclopedia
• Treacher Collins syndrome Medical Encyclopedia

Journal Articles

• Craniofacial Abnormalities