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  • Team
    Patients Visitors Your Child s Hospital Stay Pay Your Bill Financial Assistance Medical Records Health Information Exchanges MyChart About Us Who We Are Newsroom Patient Stories Research Get Involved Events Publications Health Safety Health Library Ask Your Nurse Videos Safety Store at Rady Children s Rethink Your Drink Injury Prevention Growing Up Columns Locations Main Campus Satellite Locations Emergency Urgent Care Programs Services Genetics Dysmorphology Team Rady Children s Specialists Genetics Dysmorphology Team Genetics Dysmorphology Team Conditions Treated Patient and Parent Education Frequently Asked Questions Research and Clinical Trials Resources Locations Team Our team includes board certified physicians in clinical genetics and genetic counselors Attending Physicians Albert R La Spada M D Ph D Division Chief Genetics Professor of Pediatrics UC San Diego Marilyn C Jones M D Clinical Director Cleft Palate Clinic Professor of Pediatrics UC San Diego Director UC San Diego Prenatal Diagnosis Center Lynne M Bird M D Staff Physician Assistant Adjunct Professor of Pediatrics UC San Diego Kenneth Lyons Jones M D Division Chief Dysmorphology Professor of Pediatrics UC San Diego Genetic Counselors Diane Masser Frye M S M S W 858 966 5937 Genetics Clinic Administration Patti Evertsen 858 966 5840 Cleft Palate Cranofacial Clinic

    Original URL path: http://www.rchsd.org/programs-services/genetics-dysmorphology/team/ (2015-03-26)
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  • Conditions Treated
    Services Search All Find a Doctor Patients Visitors Your Child s Hospital Stay Pay Your Bill Financial Assistance Medical Records Health Information Exchanges MyChart About Us Who We Are Newsroom Patient Stories Research Get Involved Events Publications Health Safety Health Library Ask Your Nurse Videos Safety Store at Rady Children s Rethink Your Drink Injury Prevention Growing Up Columns Locations Main Campus Satellite Locations Emergency Urgent Care Programs Services Genetics Dysmorphology Conditions Treated Rady Children s Specialists Genetics Dysmorphology Conditions Treated Genetics Dysmorphology Team Conditions Treated Patient and Parent Education Frequently Asked Questions Research and Clinical Trials Resources Locations Conditions Treated We evaluate and provide counseling for a comprehensive range of genetic conditions including Achondroplasia and other skeletal dyplasias Alagille syndrome Albinism Angelman syndrome Autism spectrum disorders Beckwith Wiedemann syndrome Bardet Biedl syndrome Chromosomal disorders such as Klinefelter syndrome Turner syndrome trisomy 18 trisomy 13 cri du chat syndrome and other chromosome deletion syndromes Cleft lip and palate disorders Cornelia de Lange syndrome Costello syndrome Down syndrome Ectodermal dysplasia Ehlers Danlos syndrome Fetal alcohol syndrome Fragile X syndrome Hemochromatosis Inherited hearing loss conditions Kabuki syndrome Marfan syndrome Neurofibromatosis Noonan syndrome Osteogenesis imperfecta Prader Willi syndrome Stickler syndrome Velocardiofacial syndrome Williams

    Original URL path: http://www.rchsd.org/programs-services/genetics-dysmorphology/conditions-treated/ (2015-03-26)
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  • Patient and Parent Education
    Library Ask Your Nurse Videos Safety Store at Rady Children s Rethink Your Drink Injury Prevention Growing Up Columns Locations Main Campus Satellite Locations Emergency Urgent Care Programs Services Genetics Dysmorphology Patient and Parent Education Rady Children s Specialists Genetics Dysmorphology Patient and Parent Education Genetics Dysmorphology Team Conditions Treated Patient and Parent Education Frequently Asked Questions Research and Clinical Trials Resources Locations Patient and Parent Education We strive to

    Original URL path: http://www.rchsd.org/programs-services/genetics-dysmorphology/patient-and-parent-education/ (2015-03-26)
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  • Frequently Asked Questions
    before entering a two to three year residency in genetics The focus of training is on the evaluation of individuals with genetically determined problems and the assessment of genetic and reproductive risk for health and disease Geneticists think of diagnoses in the context of the family in which the problem has occurred Often the patient presenting for evaluation is not the only member of the family needing information Q What is the difference between dysmorphology and clinical genetics A There is a great deal of overlap however dysmorphology is the study of birth defects and developmental abnormalities Although some have a genetic cause many do not Dysmorphology looks at the problem of birth defects in the widest possible construct Clinical genetics involves the study of the impact of altered genes on health and disease Although many developmental syndromes have been documented to have a genetic cause some genetic abnormalities such as those causing predisposition to cancer have nothing to do with birth defects The two fields overlap but are not synonymous Q What will happen during the visit A Most of the initial visit will involve taking a family history collecting information about the pregnancy and delivery of the person being evaluated discussing past evaluations bring records if you have them and performing a detailed physical examination assessing differences in structure None of the primary evaluation should be frightening or painful to a child If further laboratory testing is necessary a decision can usually be made at that time if further appointments will be necessary or if follow up can be accomplished through a telephone conversation In some instances an individual will need sequential evaluation to clarify a diagnosis Q What is a family history A A family history is the story of one s genetic origins Family histories can provide important clues to the cause of a problem or to the type of testing that should be considered The taking of a family history involves questions about the health developmental status of parents siblings their offspring and distant relatives whether they are living or dead It involves information about miscarriages and early deaths It involves questions about ethnicity and family origin During the evaluation we will construct a family tree There are two major reasons why this information is important For the dysmorphologist alterations in form are significant only if they are unusual for a particular family Understanding an individual s genetic background may help interpret certain physical differences For example a low nasal bridge would be unusual in a 10 year old boy whose parents were both of Scandinavian origin This finding might be completely normal in a 10 year old boy whose parents were both from the Philippines If structural differences are a concern bring family pictures to the appointment For the clinical geneticist knowledge of genetic background is helpful in determining whether or not a genetic contribution to the problem in question should be considered For example a microcytic anemia in a child of mixed Northern

    Original URL path: http://www.rchsd.org/programs-services/genetics-dysmorphology/frequently-asked-questions/ (2015-03-26)
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  • Research and Clinical Trials
    Get Involved Events Publications Health Safety Health Library Ask Your Nurse Videos Safety Store at Rady Children s Rethink Your Drink Injury Prevention Growing Up Columns Locations Main Campus Satellite Locations Emergency Urgent Care Programs Services Genetics Dysmorphology Research and Clinical Trials Rady Children s Specialists Genetics Dysmorphology Research and Clinical Trials Genetics Dysmorphology Team Conditions Treated Patient and Parent Education Frequently Asked Questions Research and Clinical Trials Resources Locations

    Original URL path: http://www.rchsd.org/programs-services/genetics-dysmorphology/research-and-clinical-trials/ (2015-03-26)
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  • Resources
    Safety Store at Rady Children s Rethink Your Drink Injury Prevention Growing Up Columns Locations Main Campus Satellite Locations Emergency Urgent Care Programs Services Genetics Dysmorphology Resources Rady Children s Specialists Genetics Dysmorphology Resources Genetics Dysmorphology Team Conditions Treated Patient and Parent Education Frequently Asked Questions Research and Clinical Trials Resources Locations Resources American Academy of Pediatrics Genetics and Birth Defects www healthychildren org English health issues conditions developmental disabilities

    Original URL path: http://www.rchsd.org/programs-services/genetics-dysmorphology/resources/ (2015-03-26)
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  • Locations
    Who We Are Newsroom Patient Stories Research Get Involved Events Publications Health Safety Health Library Ask Your Nurse Videos Safety Store at Rady Children s Rethink Your Drink Injury Prevention Growing Up Columns Locations Main Campus Satellite Locations Emergency Urgent Care Programs Services Genetics Dysmorphology Locations Rady Children s Specialists Genetics Dysmorphology Locations Genetics Dysmorphology Team Conditions Treated Patient and Parent Education Frequently Asked Questions Research and Clinical Trials Resources

    Original URL path: http://www.rchsd.org/programs-services/genetics-dysmorphology/locations/ (2015-03-26)
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  • Michael: Standing Tall
    going A gifted athlete Michael has a purple belt in judo and plays second base for the Morse High School Tigers He is a contact hitter and batted 300 as a freshman This year he made the citywide All Academic Baseball Team And with high school winding down for him Michael is thinking about college San Diego State and Cal State Fullerton top the list These accomplishments would gratify any teen but are especially sweet for Michael who has achondroplasia the most common form of short limbed dwarfism As a result of his condition Michael is significantly shorter than his peers however what he lacks in stature he more than makes up in drive His nickname on the diamond is Big Mike I know I m not six feet tall said Michael but I ll play like I m six feet tall Achondroplasia is caused by a mutation in a gene that controls bone growth see sidebar The mutation causes bones to stop growing too early resulting in shortened limbs Though it s a dominant genetic trait the achondroplasia mutation occurs spontaneously in 80 percent of cases including Michael s I had never heard of this condition before said Alma Akers Michael s mother and no one could really explain it to me at first When we got to Rady Children s and saw Dr Bird everything changed Lynne Bird M D is a medical geneticist at Rady Children s Hospital San Diego and a professor of clinical pediatrics at the University of California San Diego She specializes in dysmorphology the study of birth defects and has taken care of Michael since he was a baby Michael has done extremely well said Dr Bird He s had very few complications and he s adapted beautifully to his condition For the Akers family who are deeply religious adjusting to the condition has been a process and it took a little time After Michael was born I was angry at God for a while said Alma tearing up But that didn t last long He s such a blessing he teaches me something new every day Michael recognizes he is also blessed with athletic ability a fierce competitive spirit and innate leadership skills For him achondroplasia is a non issue I m not missing a thing said Michael I look at it as a challenge a challenge that I want to accept and overcome Overcome may be an understatement In elementary school Michael was president of his class Now in addition to playing baseball he helps coach a travel ball team and enjoys passing on his knowledge to younger players Michael s parents get huge credit said Dr Bird They treat him like any other kid It s nobody s fault and he s accepted just the way he is But the Akers are reluctant to take credit for their son s success They note that he is internally driven that his condition fuels him We might have overprotected him when he

    Original URL path: http://www.rchsd.org/about-us/patient-stories/stories-2012/michael-standing-tall/ (2015-03-26)
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