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
• Understanding Cleft and Craniofacial Team Care (Cleft Palate Foundation) Also in Spanish

Related Issues

• Baby's Head Shape: What's Normal? (Mayo Foundation for Medical Education and Research) Also in Spanish
• Empowering Children to Cope with Teasing (Children's Craniofacial Association) - PDF

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)
• 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)
• Treacher Collins Syndrome (Cleft Palate Foundation)

Genetics

• Genetics Home Reference: 3MC syndrome (National Library of Medicine)
• Genetics Home Reference: Aarskog-Scott syndrome (National Library of Medicine)
• Genetics Home Reference: acrocallosal syndrome (National Library of Medicine)
• Genetics Home Reference: Apert syndrome (National Library of Medicine)
• Genetics Home Reference: Baller-Gerold syndrome (National Library of Medicine)
• Genetics Home Reference: Beare-Stevenson cutis gyrata syndrome (National Library of Medicine)
• Genetics Home Reference: blepharocheilodontic syndrome (National Library of Medicine)
• Genetics Home Reference: Bohring-Opitz syndrome (National Library of Medicine)
• Genetics Home Reference: Bosma arhinia microphthalmia syndrome (National Library of Medicine)
• Genetics Home Reference: Bowen-Conradi syndrome (National Library of Medicine)
• Genetics Home Reference: branchio-oculo-facial syndrome (National Library of Medicine)
• Genetics Home Reference: Burn-McKeown syndrome (National Library of Medicine)
• Genetics Home Reference: cardiofaciocutaneous syndrome (National Library of Medicine)
• Genetics Home Reference: Carpenter syndrome (National Library of Medicine)
• Genetics Home Reference: cherubism (National Library of Medicine)
• Genetics Home Reference: cleidocranial dysplasia (National Library of Medicine)
• Genetics Home Reference: Coffin-Lowry syndrome (National Library of Medicine)
• Genetics Home Reference: Cohen syndrome (National Library of Medicine)
• Genetics Home Reference: craniofacial microsomia (National Library of Medicine)
• Genetics Home Reference: craniofacial-deafness-hand syndrome (National Library of Medicine)
• Genetics Home Reference: craniometaphyseal dysplasia (National Library of Medicine)
• Genetics Home Reference: Crouzon syndrome (National Library of Medicine)
• Genetics Home Reference: Crouzon syndrome with acanthosis nigricans (National Library of Medicine)
• Genetics Home Reference: enlarged parietal foramina (National Library of Medicine)
• Genetics Home Reference: frontonasal dysplasia (National Library of Medicine)
• Genetics Home Reference: Fryns syndrome (National Library of Medicine)
• Genetics Home Reference: Gorlin-Chaudhry-Moss syndrome (National Library of Medicine)
• Genetics Home Reference: Greig cephalopolysyndactyly syndrome (National Library of Medicine)
• Genetics Home Reference: Hartsfield syndrome (National Library of Medicine)
• Genetics Home Reference: isolated Pierre Robin sequence (National Library of Medicine)
• Genetics Home Reference: Jackson-Weiss syndrome (National Library of Medicine)
• Genetics Home Reference: Kaufman oculocerebrofacial syndrome (National Library of Medicine)
• Genetics Home Reference: mandibulofacial dysostosis with microcephaly (National Library of Medicine)
• Genetics Home Reference: Miller syndrome (National Library of Medicine)
• Genetics Home Reference: Muenke syndrome (National Library of Medicine)
• Genetics Home Reference: Nager syndrome (National Library of Medicine)
• Genetics Home Reference: Noonan syndrome (National Library of Medicine)
• Genetics Home Reference: oral-facial-digital syndrome (National Library of Medicine)
• Genetics Home Reference: osteoglophonic dysplasia (National Library of Medicine)
• Genetics Home Reference: Pfeiffer syndrome (National Library of Medicine)
• Genetics Home Reference: Potocki-Shaffer syndrome (National Library of Medicine)
• Genetics Home Reference: Robinow syndrome (National Library of Medicine)
• Genetics Home Reference: Saethre-Chotzen syndrome (National Library of Medicine)
• Genetics Home Reference: SATB2-associated syndrome (National Library of Medicine)
• Genetics Home Reference: Shprintzen-Goldberg syndrome (National Library of Medicine)
• Genetics Home Reference: Simpson-Golabi-Behmel syndrome (National Library of Medicine)
• Genetics Home Reference: Sotos syndrome (National Library of Medicine)
• Genetics Home Reference: thanatophoric dysplasia (National Library of Medicine)
• Genetics Home Reference: Treacher Collins syndrome (National Library of Medicine)
• Genetics Home Reference: Weaver syndrome (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: The phenotypic heterogeneity of patients with Marfan-related disorders and their...
• Article: Airway Anomalies in Patients With 22q11.2 Deletion Syndrome: A 5-Year...
• Article: Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome:...
• 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

Children

• What Is Treacher Collins Syndrome? (for Parents) (Nemours Foundation)

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