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?
Advanced in Osteopetrosis Autosomal Recessive Type 3
Dr. William K. White
Family Medicine | Internal Medicine
Advanced in Osteopetrosis Autosomal Recessive Type 3
Dr. William K. White
Family Medicine | Internal Medicine
105 E 4th Ave, 
Cordele, GA 
 (35.2 mi)
Languages Spoken:
English, Spanish
See accepted insurances
Accepting New Patients

William White is a Family Medicine specialist and an Internal Medicine provider in Cordele, Georgia. Dr. White and is rated as an Advanced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. His top areas of expertise are Childhood Pancreatitis, Cellulitis, Gastrointestinal Bleeding, Gastrostomy, and Colonoscopy. Dr. White is currently accepting new patients.

Experienced in Osteopetrosis Autosomal Recessive Type 3
Dr. Carlos R. Buchhammer
Internal Medicine
Experienced in Osteopetrosis Autosomal Recessive Type 3
Dr. Carlos R. Buchhammer
Internal Medicine

Southeast Medical Group, P.C.

2054 Watson Blvd, 
Warner Robins, GA 
 (77.7 mi)
478-918-0770
Languages Spoken:
English, Spanish
See accepted insurances
Accepting New Patients
Offers Telehealth

Carlos Buchhammer is an Internal Medicine provider in Warner Robins, Georgia. Dr. Buchhammer and is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. His top areas of expertise are Cirrhosis, Familial Combined Hyperlipidemia, Xanthoma, and Familial Hypertension. Dr. Buchhammer is currently accepting new patients.

 
 
 
 
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Experienced in Osteopetrosis Autosomal Recessive Type 3
Dr. Mark R. Sexton
Family Medicine
Experienced in Osteopetrosis Autosomal Recessive Type 3
Dr. Mark R. Sexton
Family Medicine

Columbus Ambulatory Healthcare Services, Inc.

1800 10th Ave, 
Columbus, GA 
 (78.8 mi)
706-571-1120
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Mark Sexton is a Family Medicine provider in Columbus, Georgia. Dr. Sexton and is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. His top areas of expertise are Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Type 2 Diabetes (T2D). Dr. Sexton is currently accepting new patients.

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