Osteopetrosis Autosomal Recessive Type 3
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Learn About Osteopetrosis Autosomal Recessive Type 3

What is the definition of Osteopetrosis Autosomal Recessive Type 3?
Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with serious complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may include fractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures, and pancytopenia. In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by genetic changes in at least 10 genes. Inheritance can be autosomal recessive, autosomal dominant, or X-linked recessive with the most severe forms being autosomal recessive.
What are the alternative names for Osteopetrosis Autosomal Recessive Type 3?
  • Osteopetrosis autosomal recessive 3
  • Autosomal recessive osteopetrosis type 3
  • Carbonic anhydrase 2 deficiency
  • Guibaud Vainsel syndrome
  • Marble brain disease
  • OPTB3
  • Osteopetrosis with renal tubular acidosis
Who are the top Osteopetrosis Autosomal Recessive Type 3 Local Doctors?
Experienced in Osteopetrosis Autosomal Recessive Type 3
Internal Medicine
Experienced in Osteopetrosis Autosomal Recessive Type 3
Internal Medicine

Bassett Health Center Stamford Main Street

3234 Main Street, 
Stamford, NY 
Languages Spoken:
English
Offers Telehealth

Robert Garfield is a primary care provider, practicing in Internal Medicine in Stamford, New York. Dr. Garfield is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. He is also highly rated in 12 other conditions, according to our data. His clinical expertise encompasses Parkinson's Disease, Hypothyroidism, Lung Metastases, and Obesity in Children.

Experienced in Osteopetrosis Autosomal Recessive Type 3
Family Medicine
Experienced in Osteopetrosis Autosomal Recessive Type 3
Family Medicine

Texas Health Family Care

2721 Panhandle St, Suite 200, 
Denton, TX 
Experience:
17+ years
Languages Spoken:
English
Offers Telehealth

Mclean Sanborn is a primary care provider, practicing in Family Medicine in Denton, Texas. He has been practicing medicine for over 17 years. Dr. Sanborn is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses Bronchitis, High Cholesterol, Type 2 Diabetes (T2D), and Glucocorticoid-Remediable Aldosteronism.

 
 
 
 
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Experienced in Osteopetrosis Autosomal Recessive Type 3
Hematology | Oncology
Experienced in Osteopetrosis Autosomal Recessive Type 3
Hematology | Oncology
Referral may be required

Tennessee Cancer Specialists

1301 Sunset Dr, Ste 3, 
Johnson City, TN 
Languages Spoken:
English
Offers Telehealth

Dharmen Patel is a Hematologist and an Oncologist practicing medicine in Johnson City, Tennessee. Dr. Patel is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. He is also highly rated in 74 other conditions, according to our data. His clinical expertise encompasses Penile Cancer, Hemochromatosis, Non-Hodgkin Lymphoma, and Acute Mountain Sickness. Dr. Patel is board certified in American Board Of Internal Medicine.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center