title: Genetic Evaluation for Craniofacial Conditions.
abstract: There are thousands of craniofacial disorders, each with a different etiology. All cases of orofacial clefts have an underlying genetic cause, ranging from multifactorial with an underlying genetic predisposition to chromosomal and single-gene etiologies. More than 50% of cases of Pierre Robin sequence are syndromic and 25% of craniosynostoses are syndromic. Clinical genetics evaluation is important for each patient with a craniofacial condition to make a proper diagnosis, counsel the family, and assist in management. This is an overview of the major components of the clinical genetics evaluation with a review of many syndromes associated with craniofacial disorders.
authors.affiliation: Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Avenue, MLC 4006, Cincinnati, OH 45229, USA. Electronic address: Howard.Saal@cchmc.org.
authors.forename: Howard M
authors.initials: HM
authors.lastname: Saal
mesh_terms: D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008487:Medical History Taking; D010808:Physical Examination; D011247:Pregnancy; D011296:Prenatal Diagnosis
keywords: Cleft lip; Cleft palate; Dysmorphology; Family history; Genetic counseling; Genetic evaluation; Genetic testing; Teratogens