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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
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  • Leaders in their field
  • Strong research portfolio
  • Likely to work with cutting edge treatments
  • Likely to be a leader in their field regionally
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  • Likely to be excellent at diagnosing and treating conditions
  • Treat many patients and have extensive experience in their field
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648 doctors found
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Elite
Medical Genetics
Pediatrics

National Institutes Of Health

10 Center Dr
 
Bethesda, MD 20892

Forbes Porter is a Medical Genetics specialist and a Pediatrics doctor in Bethesda, Maryland. Dr. Porter is rated as an Elite doctor by MediFind in the treatment of Opitz G BBB Syndrome. He is also highly rated in 30 other conditions, according to our data. His top areas of expertise are Opitz G BBB Syndrome, Smith-Lemli-Opitz Syndrome, Polydactyly, and Niemann-Pick Disease. He is licensed to treat patients in Maryland.

Distinguished

Medical University Of Innsbruck

Innsbruck, AT 

Martina Baumgartner-Witsch practices in Innsbruck, Austria. Dr. Baumgartner-Witsch is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Opitz G BBB Syndrome, Smith-Lemli-Opitz Syndrome, Polydactyly, and Myotonia Congenita.

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Distinguished

Swansea University

Swansea, WLS, GB SA28P

William Griffiths practices in Swansea, United Kingdom. Dr. Griffiths is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. He is also highly rated in 9 other conditions, according to our data. His top areas of expertise are Cerebrotendinous Xanthomatosis, Opitz G BBB Syndrome, Smith-Lemli-Opitz Syndrome, and Spastic Paraplegia Type 5A.

Distinguished

University Of Heidelberg

Division Of Neuropaediatrics And Paediatric Metabolic Medicine, Center For Paediatric And Adolescent Medicine
 
Heidelberg, BW, DE 

Dorothea Haas practices in Heidelberg, Germany. Dr. Haas is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Opitz G BBB Syndrome, Smith-Lemli-Opitz Syndrome, Polydactyly, and Dihydropteridine Reductase Deficiency.

Distinguished
Holistic Medicine

Capital Medical University

Edina, MN 55435

Wei Liu is a Holistic Medicine doctor in Edina, Minnesota. Dr. Liu is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 395 other conditions, according to our data. Her top areas of expertise are Necrosis, Leukoplakia, Hypertension, and Osteosarcoma. She is licensed to treat patients in Minnesota. Dr. Liu is currently accepting new patients.

Distinguished

McMaster University

Hamilton, ON, CA 

Malgorzata Nowaczyk practices in Hamilton, Canada. Dr. Nowaczyk is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Opitz G BBB Syndrome, Smith-Lemli-Opitz Syndrome, Polydactyly, and Hypotonia.

Distinguished
Psychiatry
Neurology

Kennedy Krieger Institute

Baltimore, MD 21205

Elaine Tierney is a Psychiatrist and a Neurologist in Baltimore, Maryland. Dr. Tierney is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, Polydactyly, and Autism Spectrum Disorder. She is licensed to treat patients in Maryland. Dr. Tierney is currently accepting new patients.

Distinguished

Swansea University

Swansea, WLS, GB SA28P

Yuqin Wang practices in Swansea, United Kingdom. Dr. Wang is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. They are also highly rated in 7 other conditions, according to our data. Their top areas of expertise are Cerebrotendinous Xanthomatosis, Opitz G BBB Syndrome, Smith-Lemli-Opitz Syndrome, and Polydactyly.

Distinguished
Medical Genetics
Pediatrics

National Institutes Of Health

10 Center Dr
 
Bethesda, MD 20892

Simona Bianconi is a Medical Genetics specialist and a Pediatrics doctor in Bethesda, Maryland. Dr. Bianconi is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, X-Linked Creatine Deficiency, and Niemann-Pick Disease. She is licensed to treat patients in New York.

Distinguished

University Of New South Wales

Sydney, NSW, AU 2052

Anika Prabhu practices in Sydney, Australia. Dr. Prabhu is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, and Polydactyly.

Distinguished

University Of Trieste

Trieste, IT 

Germana Meroni practices in Trieste, Italy. Dr. Meroni is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. They are also highly rated in 1 other condition, according to our data. Their top areas of expertise are Opitz G BBB Syndrome, Limb-Girdle Muscular Dystrophy, Crouzon Syndrome, and Hypospadias.

Distinguished
Hematology
Oncology
Internal Medicine

Christiana Care Health Services Inc

4701 Ogletown Stanton Rd
 
Newark, DE 19713

Jamil Khatri is a Hematologist and an Oncologist in Newark, Delaware. Dr. Khatri has been practicing medicine for over 32 years and is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. He is also highly rated in 91 other conditions, according to our data. His top areas of expertise are Lung Cancer, Pleuropulmonary Blastoma, Familial Colorectal Cancer, and Lynch Syndrome. He is board certified in Hematology/oncology and Medical Oncology and licensed to treat patients in Delaware. Dr. Khatri is currently accepting new patients.

Distinguished
Pediatrics

S

25 N Summit Ave
 
Gaithersburg, MD 20877

Sandra Conley is a Pediatrics doctor in Gaithersburg, Maryland. Dr. Conley is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Opitz G BBB Syndrome, Smith-Lemli-Opitz Syndrome, Polydactyly, and Dandy-Walker Syndrome. She is licensed to treat patients in Maryland. Dr. Conley is currently accepting new patients.

Distinguished

University Of Debrecen

Department Of Laboratory Medicine, Faculty Of Medicine
 
Debrecen, HB, HU 4032

Katalin Koczok practices in Debrecen, Hungary. Dr. Koczok is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 3 other conditions, according to our data. Her top areas of expertise are Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, Polydactyly, and Dystrophinopathy.

Distinguished
Medical Genetics
Pediatrics

American Board Of Medical Specialties

300 Longwood Ave
 
Boston, MA 02115

Mira Irons is a Medical Genetics specialist and a Pediatrics doctor in Boston, Massachusetts. Dr. Irons is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Opitz G BBB Syndrome, Smith-Lemli-Opitz Syndrome, Polydactyly, and Neurofibromatosis Type 1. She is licensed to treat patients in Massachusetts.

Distinguished

Medical University Of Innsbruck

Innsbruck, AT 

Johannes Zschocke practices in Innsbruck, Austria. Dr. Zschocke is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. He is also highly rated in 28 other conditions, according to our data. His top areas of expertise are Ring Chromosome 18, Hyperelastic Skin, Occipital Horn Syndrome, and Ehlers-Danlos Syndrome.

Distinguished
Pediatrics
Neurology
Medical Genetics

Childrens National Medical Center

Children's National Medical Center
 
Washington, DC 20010

Andrea Gropman is a Pediatrics specialist and a Neurologist in Washington, Washington, D.c.. Dr. Gropman is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 38 other conditions, according to our data. Her top areas of expertise are Klinefelter Syndrome, Ornithine Transcarbamylase Deficiency, Hypogonadism, and Intersex. She is licensed to treat patients in District of Columbia. Dr. Gropman is currently accepting new patients.

Distinguished

University Of Mainz

Mainz, RP, DE 55131

Susann Schweiger practices in Mainz, Germany. Dr. Schweiger is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Opitz G BBB Syndrome, Autism Spectrum Disorder, Huntington Disease, and Hypotonia.

Distinguished

University Of Debrecen

Department Of Laboratory Medicine, Faculty Of Medicine
 
Debrecen, HB, HU 4032

Istvan Balogh practices in Debrecen, Hungary. Dr. Balogh is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. He is also highly rated in 4 other conditions, according to our data. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, Cerebrotendinous Xanthomatosis, and Polydactyly.

Distinguished
Hematology
Oncology
Internal Medicine

Florida Cancer Specialists And Research Institute, LLC

1037 S State Rd 7
 
Wellington, FL 33414

Todd Gersten is a Hematologist and an Oncologist in Wellington, Florida. Dr. Gersten has been practicing medicine for over 24 years and is rated as a Distinguished doctor by MediFind in the treatment of Opitz G BBB Syndrome. He is also highly rated in 18 other conditions, according to our data. His top areas of expertise are Paget Disease of the Breast, Myelodysplastic Syndrome, Tietz Syndrome, and Opitz G BBB Syndrome. He is board certified in Hematology/oncology and licensed to treat patients in Florida. Dr. Gersten is currently accepting new patients.

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What is the definition of Opitz G BBB Syndrome?

Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.

Nearly everyone with Opitz G/BBB syndrome has wide-spaced eyes (ocular hypertelorism). Affected individuals commonly have defects of the voice box (larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause difficulty swallowing or breathing, in some cases resulting in recurrent pneumonia or life-threatening breathing problems. A common defect is a gap between the trachea and esophagus (laryngeal cleft) that allows food or fluids to enter the airway. The cleft can vary in size, and infants may struggle to breathe when feeding. Most males with Opitz G/BBB syndrome have genital abnormalities such as the urethra opening on the underside of the penis (hypospadias), undescended testes (cryptorchidism), an underdeveloped scrotum, or a scrotum divided into two lobes (bifid scrotum). These genital abnormalities can lead to problems in the urinary tract.

Mild intellectual disability and developmental delay occur in about 50 percent of people with Opitz G/BBB syndrome. Affected individuals have delayed motor skills, such as walking, speech delay, and learning difficulties. Some people with Opitz G/BBB syndrome have features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills. About half of affected individuals also have an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Some have cleft palate without cleft lip. Less common features of Opitz G/BBB syndrome, affecting less than half of people with this disorder, include minor heart defects, an obstruction of the anal opening (imperforate anus), and brain defects such as a small or absent connection between the left and right halves of the brain (corpus callosum). Distinct facial features that may be seen in this disorder include a prominent forehead, widow's peak hairline, flat nasal bridge, thin upper lip, and low-set ears. These features vary among affected individuals, even within the same family.

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.