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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?
Robert Garfield
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

. Dr. Garfield is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. His top areas of expertise are Parkinson's Disease, Hypothyroidism, Lung Metastases, and Obesity in Children.

Naheed Rizvi
Experienced in Osteopetrosis Autosomal Recessive Type 3
Internal Medicine
Experienced in Osteopetrosis Autosomal Recessive Type 3
Internal Medicine

Bassett Prime Care Cooperstown

1 Atwell Road, Clinic Building, 
Cooperstown, NY 
Languages Spoken:
English

. Dr. Rizvi is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. Her top areas of expertise are Maturity Onset Diabetes of the Young, Osteoporosis, Postmenopausal Osteoporosis, and Anemia.

 
 
 
 
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Mclean R. Sanborn
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 
Languages Spoken:
English

Mclean Sanborn is a primary care provider, practicing in Family Medicine in Denton, Texas. Dr. Sanborn is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. His top areas of expertise are Bronchitis, High Cholesterol, Type 2 Diabetes (T2D), and Familial Hypertension.

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