Clinical Genetics and Dysmorphology Services

An estimated one out of every 20 infants is born with a birth defect as a result of either genetic or environmental causes. Genetic factors can produce a variety of problems that may be evident during childhood or even in adult life. With proper diagnosis, it is now possible to treat many of these disorders, reduce their impact or even prevent their occurrence in future members of the family.

The Division of Clinical Genetics and Dysmorphology at Cedars-Sinai Medical Center has contributed to a number of research efforts that discovered the genes for a number of common conditions that result in developmental disabilities. These activities have resulted in new diagnostic tests for these conditions and contributed toward understanding the natural history and best modes of treatment for these disorders. 

The Director of this Division, Dr. John Graham, is also widely experienced in the diagnosis and treatment of environmentally determined birth defects, such as fetal alcohol syndrome, maternal hyperthermia effects and anticonvulsant embryopathy. These long-term efforts to understand conditions that result in birth defects and developmental disabilities have made CSMC an internationally recognized center for the care and treatment of children affected by these disorders. Dr. Graham has written the only book on deformations and their care and treatment, Smith’s Recognizable Patterns of Human Deformation, which is now in its third edition and used throughout the world. The research behind this book was accomplished over the last 30 years, and it has resulted in standards for the treatment of deformational plagiocephaly and brachycephaly.  Because of this expertise, patients are attracted from all over Southern California to seek consultation regarding the treatment of their infants with head deformations. This resource is also valued by local pediatricians as a resource for the diagnosis and treatment of common alterations in head shape that are of great concern to local families.

Clinical Genetics and Dysmorphology Services at Cedars-Sinai offers diagnosis and counseling for a wide range of problems due to birth defects, genetic diseases, chromosomal alterations, metabolic disorders, variations in growth or development, craniofacial malformations, teratogenic exposures, histories of genetic diseases or birth defects within a family.

Diagnostic capabilities include state-of-the-art cytogenetics, molecular and biochemical laboratories. Our specialists are also experienced at helping with all related physical and developmental problems.

Social support services are available if indicated for all patients suspected of having a genetic diseases or congenital program, coordination of medical care and referral to local and state programs that provide assistance to families with a child who has a birth defect.

For a formal clinical evaluation, please schedule an appointment with our Genetics clinic (310) 423-9914

Clinical Genetics Team

Genetic Counselor: Margaret Au, M.S.
Clinical Genetics Director: John M. Graham, MD, ScD

Associate Director, Common Diseases Genetics Program: Leslie Raffel, MD
Medical Genetics Institute
Ph: 310-423-9914
Fax: 310-423-2080

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