Osteopetrosis Autosomal Recessive Type 3 Overview

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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?
Barry J. Hanger
Experienced in Osteopetrosis Autosomal Recessive Type 3
Dr. Barry J. Hanger
Internal Medicine
Experienced in Osteopetrosis Autosomal Recessive Type 3
Dr. Barry J. Hanger
Internal Medicine

Atrium Health Primary Care Internal Medicine Ballantyne

15110 John J. Delaney Drive, Suite 200, 
Charlotte, NC 
704-302-8100
Languages Spoken:
English
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Accepting New Patients

Barry Hanger is a primary care provider, practicing in Internal Medicine in Charlotte, North Carolina. Dr. Hanger is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. His top areas of expertise are High Cholesterol, Maturity Onset Diabetes of the Young, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism. Dr. Hanger is currently accepting new patients.

Advanced in Osteopetrosis Autosomal Recessive Type 3
Dr. Laleh Bigdeli
Family Medicine
Advanced in Osteopetrosis Autosomal Recessive Type 3
Dr. Laleh Bigdeli
Family Medicine

Texas Health Physicians Group

970 N Coit Rd, Suite 3040, 
Richardson, TX 
972-238-8092
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Laleh Bigdeli is a primary care provider, practicing in Family Medicine in Richardson, Texas. Dr. Bigdeli is rated as an Advanced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. Her top areas of expertise are Bronchitis, Vitamin D Deficiency, Familial Combined Hyperlipidemia, and Xanthoma.

 
 
 
 
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Experienced in Osteopetrosis Autosomal Recessive Type 3
Dr. Iandine T. Paras
Internal Medicine
Experienced in Osteopetrosis Autosomal Recessive Type 3
Dr. Iandine T. Paras
Internal Medicine

Franciscan Medical Group

1608 S J St, Fl 1, 
Tacoma, WA 
253-274-7501
Languages Spoken:
English, Filipino
See accepted insurances
Accepting New Patients
Offers Telehealth

Iandine Paras is a primary care provider, practicing in Internal Medicine in Tacoma, Washington. Dr. Paras is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. His top areas of expertise are Familial Hypertension, Hypertension, Glucocorticoid-Remediable Aldosteronism, and High Cholesterol. Dr. Paras is currently accepting new patients.

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