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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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387 doctors found
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Elite

University Of Helsinki

Helsinki, FI 00014

Svetlana Vakkilainen practices. Vakkilainen is rated as an Elite doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. She is also highly rated in 16 other conditions, according to our data. Her top areas of expertise are Cartilage-Hair Hypoplasia, Acromesomelic Dysplasia Campailla Martinelli Type, Acromesomelic Dysplasia Maroteaux Type, and Acromesomelic Dysplasia.

Elite

University Of Helsinki

Oncology And Stem Cell Transplantation, Helsinki University Hospital
 
Helsinki, FI 

Mervi Taskinen practices. Taskinen is rated as an Elite doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. They are also highly rated in 19 other conditions, according to our data. Their top areas of expertise are Cartilage-Hair Hypoplasia, Acromesomelic Dysplasia Campailla Martinelli Type, Acromesomelic Dysplasia, and Acromesomelic Dysplasia Maroteaux Type.

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Distinguished
Obstetrics and Gynecology

Finnish Association For Children And Young People

FI 

Elina Holopainen is an Obstetrics and Gynecologist. Holopainen is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. She is also highly rated in 16 other conditions, according to our data. Her top areas of expertise are Cartilage-Hair Hypoplasia, Acromesomelic Dysplasia Campailla Martinelli Type, Acromesomelic Dysplasia Maroteaux Type, and Acromesomelic Dysplasia Hunter Thompson Type.

Distinguished

University Of Helsinki

Children's Hospital And Pediatric Research Center, Helsinki University Hospital
 
Helsinki, FI 

Outi Makitie practices. Makitie is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. They are also highly rated in 54 other conditions, according to our data. Their top areas of expertise are Osteogenesis Imperfecta, Acromesomelic Dysplasia Campailla Martinelli Type, Achondrogenesis, and Acromesomelic Dysplasia.

Distinguished

University Of Helsinki

Helsinki, FI 00029

Paula Klemetti practices. Klemetti is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. She is also highly rated in 15 other conditions, according to our data. Her top areas of expertise are Cartilage-Hair Hypoplasia, Acromesomelic Dysplasia Campailla Martinelli Type, Acromesomelic Dysplasia, and Acromesomelic Dysplasia Hunter Thompson Type.

Distinguished
Pediatric Allergy and Immunology
Pediatrics
Allergy and Immunology

National Institutes Of Health

1 Blackfan Cir
 
Boston, MA 02115

Luigi Notarangelo is a Pediatric Allergy and Immunologist and a Pediatrics doctor. Dr. Notarangelo is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. He is also highly rated in 55 other conditions, according to our data. His top areas of expertise are Severe Combined Immunodeficiency, X-Linked Severe Combined Immunodeficiency, Omenn Syndrome, and Bare Lymphocyte Syndrome.

Distinguished

University Of Helsinki

Baba Center And Pediatric Research Center, Children's Hospital
 
Helsinki, FI 

Sanna Salo-Toiviainen practices. Salo-Toiviainen is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. She is also highly rated in 12 other conditions, according to our data. Her top areas of expertise are Cartilage-Hair Hypoplasia, Acromesomelic Dysplasia Hunter Thompson Type, Acromesomelic Dysplasia Maroteaux Type, and Acromesomelic Dysplasia Campailla Martinelli Type.

Distinguished

University Of Helsinki

Helsinki, FI 

Helena Valta practices. Valta is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. She is also highly rated in 20 other conditions, according to our data. Her top areas of expertise are Cartilage-Hair Hypoplasia, Schwartz-Jampel Syndrome, Multiple Epiphyseal Dysplasia, and X-Linked Spondyloepiphyseal Dysplasia Tarda.

Distinguished

Maastricht University

Maastricht, LI, NL 

Tim Welting practices. Welting is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. They are also highly rated in 9 other conditions, according to our data. Their top areas of expertise are Cartilage-Hair Hypoplasia, Achondrogenesis, Osteoarthritis, and Winchester Syndrome.

Distinguished

University Of Turku

Turku, FI 20521

Leena Kainulainen practices. Kainulainen is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. She is also highly rated in 1 other condition, according to our data. Her top areas of expertise are Cartilage-Hair Hypoplasia, Acromesomelic Dysplasia Maroteaux Type, Acromesomelic Dysplasia, and Acromesomelic Dysplasia Hunter Thompson Type.

Distinguished
Physiatry
Sports Medicine

Revive Spine And Pain Center

515 S Broad St
 
Trenton, NJ 08611

Michael Rizkalla is a Physiatrist and a Sports Medicine doctor. Dr. Rizkalla has been practicing medicine for over 14 years and is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. He is also highly rated in 25 other conditions, according to our data. His top areas of expertise are Metaphyseal Chondrodysplasia Schmid Type, Craniometaphyseal Dysplasia, Singleton-Merten Syndrome, and Buschke-Ollendorff Syndrome. He is board certified in Physical Medicine And Rehabilitation, Pain Management, and Sports Medicine.

Distinguished

Radboud University Medical Center

Radboud University
 
Nijmegen, GE, NL 

Ger Pruijn practices. Pruijn is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. He is also highly rated in 15 other conditions, according to our data. His top areas of expertise are Cartilage-Hair Hypoplasia, Inclusion Body Myositis, Rheumatoid Arthritis, and Cytoplasmic Body Myopathy.

Distinguished
Pediatrics

Clinic For Special Children

535 Bunker Hill Road
 
Strasburg, PA 17579

Kevin Strauss is a Pediatrics doctor. Dr. Strauss is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. He is also highly rated in 17 other conditions, according to our data. His top areas of expertise are Maple Syrup Urine Disease, Crigler-Najjar Syndrome, Rotor Syndrome, and Cartilage-Hair Hypoplasia.

Distinguished

University Of Helsinki

Helsinki, FI 

Mikko Seppanen practices. Seppanen is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. They are also highly rated in 12 other conditions, according to our data. Their top areas of expertise are Cartilage-Hair Hypoplasia, Common Variable Immune Deficiency, Acromesomelic Dysplasia Maroteaux Type, and Acromesomelic Dysplasia Campailla Martinelli Type.

Distinguished

Sanjay Gandhi Postgraduate Institute Of Medical Sciences

Manipala, KA, IN 

Dhanya Narayanan practices. Narayanan is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. She is also highly rated in 19 other conditions, according to our data. Her top areas of expertise are Pyle Disease, Cartilage-Hair Hypoplasia, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Schwartz-Jampel Syndrome.

Distinguished

University Of Heidelberg

Centre For Child And Adolescent Medicine
 
Heidelberg, BW, DE 

Christian Thiel practices. Thiel is rated as a Distinguished doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are PGM1-CDG, PMM2-Congenital Disorder of Glycosylation, Cartilage-Hair Hypoplasia, and Cutis Laxa.

Advanced
Interventional Radiology
Radiology

The Medical College Of Wisconsin Inc

8701 W Watertown Plank Rd
 
Milwaukee, WI 53226

Sean Tutton is an Interventional Radiologist and a Radiologist. Dr. Tutton has been practicing medicine for over 30 years and is rated as an Advanced doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. He is also highly rated in 48 other conditions, according to our data. His top areas of expertise are Desmoid Tumor, Infantile Myofibromatosis, Congenital Generalized Fibromatosis, and Frontometaphyseal Dysplasia. He is board certified in Interventional Radiology.

Advanced
General Practice

Regional Health Services Inc

3406 Peach St
 
Erie, PA 16508

John Balmer is a General Practice doctor. Dr. Balmer has been practicing medicine for over 31 years and is rated as an Advanced doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. He is also highly rated in 90 other conditions, according to our data. His top areas of expertise are Chronic Pain, Atypical Pneumonia, Hospital-Acquired Pneumonia, and Metaphyseal Chondrodysplasia Schmid Type. He is board certified in Family Medicine, Emergency Medicine, Neurology, and Pain Management. Dr. Balmer is currently accepting new patients.

Advanced
Emergency Medicine
General Practice

Grant County Public Hospital District 1

Moses Lake, WA 98837

Kevin Smith is an Emergency Medicine specialist and a General Practice doctor. Dr. Smith is rated as an Advanced doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. He is also highly rated in 34 other conditions, according to our data. His top areas of expertise are Hereditary Multiple Osteochondromas, Multicentric Carpotarsal Osteolysis Syndrome, Myhre Syndrome, and Opsismodysplasia.

Advanced

Hôpital Necker Enfants Malades

Paris, FR 

Despina Moshous practices. Moshous is rated as an Advanced doctor by MediFind in the treatment of Cartilage-Hair Hypoplasia. She is also highly rated in 28 other conditions, according to our data. Her top areas of expertise are Severe Combined Immunodeficiency, Hemophagocytic Lymphohistiocytosis, Histiocytosis, and Reticuloendotheliosis.

Showing 1-20 of 387

What is the definition of Cartilage-Hair Hypoplasia?

Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections.

People with cartilage-hair hypoplasia have unusually short limbs and short stature from birth. They typically have malformations in the cartilage near the ends of the long bones in the arms and legs (metaphyseal chondrodysplasia), which then affects development of the bone itself. Most people with cartilage-hair hypoplasia are unusually flexible in some joints, but they may have difficulty extending their elbows fully.

Affected individuals have hair that is lighter in color than that of other family members because the core of each hair, which contains some of the pigment that contributes the hair's color, is missing. The missing core also makes each strand of hair thinner, causing the hair to have a sparse appearance overall. Unusually light-colored skin (hypopigmentation), malformed nails, and dental abnormalities may also be seen in this disorder.

The extent of the immune deficiency in cartilage-hair hypoplasia varies from mild to severe. Affected individuals with the most severe immune problems are considered to have severe combined immunodeficiency (SCID). People with SCID lack virtually all immune protection from bacteria, viruses, and fungi and are prone to repeated and persistent infections that can be very serious or life-threatening. These infections are often caused by "opportunistic" organisms that ordinarily do not cause illness in people with a normal immune system. Most people with cartilage-hair hypoplasia, even those who have milder immune deficiency, experience infections of the respiratory system, ears, and sinuses. In particular, the chicken pox virus (varicella) often causes dangerous infections in people with this disorder. Autoimmune disorders, which occur when the immune system malfunctions and attacks the body's tissues and organs, occur in some people with cartilage-hair hypoplasia. Affected individuals are also at an increased risk of developing cancer, particularly certain skin cancers (basal cell carcinomas), cancer of blood-forming cells (leukemia), and cancer of immune system cells (lymphoma).

Some people with cartilage-hair hypoplasia experience gastrointestinal problems. These problems may include an inability to properly absorb nutrients or intolerance of a protein called gluten found in wheat and other grains (celiac disease). Affected individuals may have Hirschsprung disease, an intestinal disorder that causes severe constipation, intestinal blockage, and enlargement of the colon. Narrowing of the anus (anal stenosis) or blockage of the esophagus (esophageal atresia) may also occur.

Behind the Cartilage-Hair Hypoplasia 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 Cartilage-Hair Hypoplasia, 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 Cartilage-Hair Hypoplasia. 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.