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
Hematology | Oncology
Experienced in Osteopetrosis Autosomal Recessive Type 3
Hematology | Oncology

Tennessee Cancer Specialists

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

. Dr. Patel is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. His top areas of expertise are Penile Cancer, Hemochromatosis, Non-Hodgkin Lymphoma, and Acute Mountain Sickness.

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.

 
 
 
 
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Jonathan M. Nesfeder
Experienced in Osteopetrosis Autosomal Recessive Type 3
Internal Medicine
Experienced in Osteopetrosis Autosomal Recessive Type 3
Internal Medicine

Reading Hospital Internal Medicine Practice

301 S 7th Ave, Ste 340, 
West Reading, PA 
Languages Spoken:
English

. Dr. Nesfeder is rated as an Experienced provider by MediFind in the treatment of Osteopetrosis Autosomal Recessive Type 3. His top areas of expertise are Autoimmune Hemolytic Anemia, Enlarged Prostate (BPH), Familial Hypertension, and Hypertension.

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