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Elite
  • Global leaders in their field
  • Publish in medical journals frequently
  • Speak at conferences
  • Participate in clinical trials
  • Likely to work with cutting edge treatments
  • Likely to hold leadership positions in their organization
Distinguished
  • Leaders in their field
  • Strong research portfolio
  • Likely to work with cutting edge treatments
  • Likely to be a leader in their field regionally
Advanced
  • Likely to be excellent at diagnosing and treating conditions
  • Treat many patients and have extensive experience in their field
  • Less likely to publish, speak at conferences, or participate in clinical trials
Experienced
  • Primarily treat patients
  • May be specialists or primary care physicians
  • Have great experience in diagnosing and treating conditions
  • Less likely to set themselves apart from peers by publishing, speaking at conferences, or participating in clinical trials
  • Majority of doctors fall within this rating
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101 doctors found
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Elite
Pediatrics
Medical Genetics

Massachusetts General Physicians Organization Inc

55 Fruit St
 
Boston, MA 02114

Brian Skotko is a Pediatrics specialist and a Medical Genetics doctor in Boston, Massachusetts. Dr. Skotko has been practicing medicine for over 15 years and is rated as an Elite doctor by MediFind in the treatment of Down Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Down Syndrome, Ehlers-Danlos Syndrome, Brittle Cornea Syndrome, and Vascular Ehlers-Danlos Syndrome. He is board certified in Pediatric Medicine and licensed to treat patients in Massachusetts. Dr. Skotko is currently accepting new patients.

Distinguished
Medical Genetics
Obstetrics and Gynecology

Ucsf Medical Group Business Services

400 Parnassus Ave
 
San Francisco, CA 94143

Mary Norton is a Medical Genetics specialist and an Obstetrics and Gynecologist in San Francisco, California. Dr. Norton has been practicing medicine for over 35 years and is rated as a Distinguished doctor by MediFind in the treatment of Down Syndrome. She is also highly rated in 17 other conditions, according to our data. Her top areas of expertise are Fetal Edema, Hydrops Fetalis, Hemolytic Disease of the Newborn, and Alpha Thalassemia. She is board certified in Obstetrics/gynecology and licensed to treat patients in California. Dr. Norton is currently accepting new patients.

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Distinguished
General Practice
Medical Genetics

University Of Arkansas

4301 W Markham St
 
Little Rock, AR 72205

Kent Mckelvey is a General Practice specialist and a Medical Genetics doctor in Little Rock, Arkansas. Dr. Mckelvey has been practicing medicine for over 25 years and is rated as a Distinguished doctor by MediFind in the treatment of Down Syndrome. He is also highly rated in 8 other conditions, according to our data. His top areas of expertise are Down Syndrome, Wolf-Hirschhorn Syndrome, Chromosome 4p Deletion, and Wolf-Hirschorn Syndrome. He is board certified in Family Medicine and licensed to treat patients in Arkansas. Dr. Mckelvey is currently accepting new patients.

Distinguished
Medical Genetics

University Of Connecticut Health Center

38 Metacomet Rd
 
Farmington, CT 06032

Peter Benn is a Medical Genetics doctor in Farmington, Connecticut. Dr. Benn is rated as a Distinguished doctor by MediFind in the treatment of Down Syndrome. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Trisomy 13, Down Syndrome, Triploidy, and Mosaicism. He is licensed to treat patients in Connecticut.

Advanced
Medical Genetics
Obstetrics and Gynecology

University Of Penn Medical Group

3400 Spruce Street
 
Philadelphia, PA 19104

Lorraine Dugoff is a Medical Genetics specialist and an Obstetrics and Gynecologist in Philadelphia, Pennsylvania. Dr. Dugoff has been practicing medicine for over 32 years and is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Down Syndrome, Polyhydramnios, Placental Insufficiency, and Premature Infant. She is board certified in Obstetrics/gynecology and licensed to treat patients in Pennsylvania. Dr. Dugoff is currently accepting new patients.

Advanced
Pediatrics
Medical Genetics

Massachusetts General Physicians Organization Inc

1 Maguire Rd
 
Lexington, MA 02421

Stephanie Santoro is a Pediatrics specialist and a Medical Genetics doctor in Lexington, Massachusetts. Dr. Santoro has been practicing medicine for over 12 years and is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. She is also highly rated in 1 other condition, according to our data. Her top area of expertise is Down Syndrome. She is board certified in Pediatric Medicine and licensed to treat patients in Ohio and Massachusetts. Dr. Santoro is currently accepting new patients.

Advanced
Medical Genetics
Pediatrics

Florida Clinical Practice Association Inc

2001 Sw 13th St
 
Gainesville, FL 32608

Sonja Rasmussen is a Medical Genetics specialist and a Pediatrics doctor in Gainesville, Florida. Dr. Rasmussen has been practicing medicine for over 38 years and is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. She is also highly rated in 24 other conditions, according to our data. Her top areas of expertise are Zika Virus Disease, Gastroschisis, Severe Acute Respiratory Syndrome, and COVID-19. She is board certified in Medical Genetics And Genomics and Pediatric Medicine and licensed to treat patients in Florida. Dr. Rasmussen is currently accepting new patients.

Advanced
Medical Genetics
Pediatrics

University Pediatric Associates, Inc.

705 Riley Hospital Dr
 
Indianapolis, IN 46202

Marilyn Bull is a Medical Genetics specialist and a Pediatrics doctor in Indianapolis, Indiana. Dr. Bull has been practicing medicine for over 53 years and is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Down Syndrome, Gastroesophageal Reflux in Infants, Premature Infant, and Congenital Heart Disease. She is board certified in Medical Genetics And Genomics and Pediatric Medicine and licensed to treat patients in Indiana. Dr. Bull is currently accepting new patients.

Advanced
Medical Genetics

Duke University Medical Center

Duke University Medical Ctr
 
Durham, NC 27710

Blythe Crissman is a Medical Genetics doctor in Durham, North Carolina. Dr. Crissman is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. She is also highly rated in 1 other condition, according to our data. Her top area of expertise is Down Syndrome.

Advanced
Medical Genetics

Pain And Health Management Center PA

3003 Health Center Dr
 
San Diego, CA 92123

Allan Bombard is a Medical Genetics doctor in San Diego, California. Dr. Bombard is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. He is also highly rated in 4 other conditions, according to our data. His top areas of expertise are Trisomy 13, Trisomy 18, Down Syndrome, and Chromosome 13q Duplication. He is licensed to treat patients in New York, California, and Texas.

Advanced
Medical Genetics

Ohio State University

1645 Neil Ave
 
Columbus, OH 43210

Nyla Heerema is a Medical Genetics doctor in Columbus, Ohio. Dr. Heerema is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. She is also highly rated in 17 other conditions, according to our data. Her top areas of expertise are Leukemia, Acute Lymphoblastic Leukemia, Chronic B-Cell Leukemia, and Chronic Lymphocytic Leukemia. She is licensed to treat patients in Ohio.

Advanced
Medical Genetics

Northwestern Reproductive Genetics, Inc

680 N Lake Shore Dr
 
Chicago, IL 60611

Eugene Pergament is a Medical Genetics doctor in Chicago, Illinois. Dr. Pergament is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Trisomy 13, Chromosome 13q Duplication, Down Syndrome, and Trisomy 18. He is licensed to treat patients in Illinois.

Advanced
Pediatrics
Medical Genetics

Childrens National Medical Center

Nashville, TN 37232

Marshall Summar is a Pediatrics specialist and a Medical Genetics doctor in Nashville, Tennessee. Dr. Summar is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are Inborn Amino Acid Metabolism Disorder, Argininosuccinic Aciduria, Ornithine Transcarbamylase Deficiency, and Propionic Acidemia. He is licensed to treat patients in Tennessee. Dr. Summar is currently accepting new patients.

Advanced
Medical Genetics
Pediatrics

Gundersen Lutheran Medical Center Inc

1836 S Ave
 
La Crosse, WI 54601

Kerry Jedele is a Medical Genetics specialist and a Pediatrics doctor in La Crosse, Wisconsin. Dr. Jedele has been practicing medicine for over 36 years and is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Down Syndrome, Metopic Ridge, Lambdoid Synostosis, and Baller-Gerold Syndrome. She is board certified in Medical Genetics And Genomics and Pediatric Medicine and licensed to treat patients in Wisconsin. Dr. Jedele is currently accepting new patients.

Advanced
Medical Genetics
Obstetrics and Gynecology

Oregon Health & Science University

1100 Van Ness Ave
 
San Francisco, CA 94109

Brian Shaffer is a Medical Genetics specialist and an Obstetrics and Gynecologist in San Francisco, California. Dr. Shaffer is rated as an Advanced doctor by MediFind in the treatment of Down Syndrome. He is also highly rated in 2 other conditions, according to our data. His top areas of expertise are Trisomy 18, Down Syndrome, Gestational Diabetes, and Jacobsen Syndrome. He is licensed to treat patients in Oregon, California, and Washington. Dr. Shaffer is currently accepting new patients.

Experienced
Pediatrics
Medical Genetics

Rhode Island Hospital

11 Friendship St
 
Newport, RI 02840

Lauren Massingham is a Pediatrics specialist and a Medical Genetics doctor in Newport, Rhode Island. Dr. Massingham has been practicing medicine for over 15 years and is rated as an Experienced doctor by MediFind in the treatment of Down Syndrome. Her top areas of expertise are Hypochondroplasia, Thanatophoric Dysplasia, Pentalogy of Cantrell, and DICER1 Syndrome. She is board certified in Pediatric Medicine and licensed to treat patients in Rhode Island. Dr. Massingham is currently accepting new patients.

Experienced
Medical Genetics
Obstetrics and Gynecology

Prisma Health Medical Group-Midlands

Columbia, SC 29203

Anthony Gregg is a Medical Genetics specialist and an Obstetrics and Gynecologist in Columbia, South Carolina. Dr. Gregg has been practicing medicine for over 35 years and is rated as an Experienced doctor by MediFind in the treatment of Down Syndrome. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Infertility, Spinal Muscular Atrophy, High Blood Pressure in Infants, and Preeclampsia. He is board certified in Obstetrics/gynecology and licensed to treat patients in South Carolina. Dr. Gregg is currently accepting new patients.

Experienced
Medical Genetics
Obstetrics and Gynecology

Ariosa Diagnostics Inc

1 Daniel Burnham Ct
 
San Francisco, CA 94109

Thomas Musci is a Medical Genetics specialist and an Obstetrics and Gynecologist in San Francisco, California. Dr. Musci is rated as an Experienced doctor by MediFind in the treatment of Down Syndrome. His top areas of expertise are Down Syndrome, Fragile XE Syndrome, Trisomy 13, and Fragile X Syndrome. He is licensed to treat patients in California.

Experienced
Medical Genetics
Obstetrics and Gynecology

Netzah Health Corp

866 N Vermont Ave
 
Los Angeles, CA 90029

Patrick Baggot is a Medical Genetics specialist and an Obstetrics and Gynecologist in Los Angeles, California. Dr. Baggot has been practicing medicine for over 39 years and is rated as an Experienced doctor by MediFind in the treatment of Down Syndrome. His top area of expertise is Down Syndrome. He is board certified in Obstetrics/gynecology and Medical Genetics And Genomics and licensed to treat patients in California.

Experienced
Medical Genetics

Levine Children's Hospital At Carolina Healthcare System

1000 Blythe Blvd
 
Charlotte, NC 28203

Campbell Brasington is a Medical Genetics doctor in Charlotte, North Carolina. Dr. Brasington is rated as an Experienced doctor by MediFind in the treatment of Down Syndrome. Her top areas of expertise are Down Syndrome and Polymicrogyria.

Showing 1-20 of 101

What is the definition of Down Syndrome?

Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.

People with Down syndrome often have a characteristic facial appearance that includes a flattened appearance to the face, outside corners of the eyes that point upward (upslanting palpebral fissures), small ears, a short neck, and a tongue that tends to stick out of the mouth. Affected individuals may have a variety of birth defects. Many people with Down syndrome have small hands and feet and a single crease across the palms of the hands. About half of all affected children are born with a heart defect. Digestive abnormalities, such as a blockage of the intestine, are less common.

Individuals with Down syndrome have an increased risk of developing several medical conditions. These include gastroesophageal reflux, which is a backflow of acidic stomach contents into the esophagus, and celiac disease, which is an intolerance of a wheat protein called gluten. About 15 percent of people with Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid gland is a butterfly-shaped organ in the lower neck that produces hormones. Individuals with Down syndrome also have an increased risk of hearing and vision problems. Additionally, a small percentage of children with Down syndrome develop cancer of blood-forming cells (leukemia).

Delayed development and behavioral problems are often reported in children with Down syndrome. Affected individuals can have growth problems and their speech and language develop later and more slowly than in children without Down syndrome. Additionally, speech may be difficult to understand in individuals with Down syndrome. Behavioral issues can include attention problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small percentage of people with Down syndrome are also diagnosed with developmental conditions called autism spectrum disorders, which affect communication and social interaction.

People with Down syndrome often experience a gradual decline in thinking ability (cognition) as they age, usually starting around age 50. Down syndrome is also associated with an increased risk of developing Alzheimer disease, a brain disorder that results in a gradual loss of memory, judgment, and ability to function. Approximately half of adults with Down syndrome develop Alzheimer disease. Although Alzheimer disease is usually a disorder that occurs in older adults, people with Down syndrome commonly develop this condition earlier, in their fifties or sixties.

Behind the List

MediFind is the industry authority on identifying the leading medical experts and latest research in order to help patients facing complex health challenges, including , make better health decisions. Leveraging our expertise in natural language processing and machine learning across thousands of diseases, we uncover physicians who are leading authorities on . MediFind identifies these experts using proprietary world-class models that assess over 2.5 million global doctors based on a range of variables, including research leadership, patient volume, peer standing, and connectedness to other experts. Learn more about our methodology by exploring how MediFind works.