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- Disease Information
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Disease Processes ▼
- Auto Immune
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Major Organs-Systems ▼
- Systemic
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- Nervous & Sensory System (Neurology)
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Disease Information for Osteopetrosis (Albers-Schonberg)
- Clinical Manifestations
- Signs & Symptoms
- Palpable Liver/Hepatomegaly
- Facial Nerve Palsy/Facial Paralysis
- Facial weakness/droop, unilateral
- Bossing forehead,infants
- Macrocephaly/Large head
- Megalocephaly
- Skeletal problems/symptoms/signs
- Splenomegaly
- Short stature
- Short stature Child
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Pancytopenia with Infiltrated Marrow
- Demographics & Risk Factors
- Ethnic or Racial Factors
- Arab/population
- Population Group
- Child
- Population/Pediatrics population
- Status/Nursing home patient/setting
- Family History
- Family history/Skeletal malformations
- Sex & Age Groups
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Laboratory Tests
- Abnormal Lab Findings (Non Measured)
- Acanthocytes peripheral smear (Lab)
- Abnormal Lab Findings - Decreased
- Magnesium (Lab)
- Phosphate Serum (Lab)
- Platelet count (Lab)
- Abnormal Lab Findings - Increased
- Lymphocytes (Lab)
- Diagnostic Test Results
- Pathology
- BX/Bone marrow biopsy/hypocellular
- CT Scan
- CT/Bone Mineral Density/Increased
- X-RAY
- Xray/Bone abnormality
- Xray/Frontal bossing, infant/Skull
- Xray/Increased bone density
- Xray/Long bones abnormality/Skeletal
- Xray/Long Bones Dense Striations Ends
- Xray/Parietal bossing/Skull
- Xray/Skeletal findings
- Xray/Skull bones thickened
- Xray/Vertebrae Dense Bands
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Acanthocytosis
- Anemia
- Bells palsy/Facial nerve paralysis
- Blindness in Children
- Facial nerve palsy/secondary
- Fractures, general
- Hypomagnesemia
- Hypophosphatemia
- Lymphocytosis
- Magnesium deficiency
- Neonatal thrombocytopenia
- Obstructive sleep apnea/Children
- Osteopetrosis
- Pancytopenia
- Recurrent bone fractures
- Skeletal dysplasia
- Skeletal/bone malformations
- Facial Paralysis
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- CLASS/Bone disorder (ex)
- CLASS/Diffuse bone involvement/disorder (ex)
- CLASS/Skeletal (category)
- Pathophysiology
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Varied Hereditary Pattern
- Process
- PROCESS/Autosomal dominant hereditary disease (ex).
- PROCESS/Autosomal recessive disorder (ex)
- PROCESS/Congenital/developmental (category)
- PROCESS/Hereditofamilial (category)
- PROCESS/Anomalies/Deformities/Malformations (EX)
- Synonyms
- Synonym
- Albers Scho nberg syndrome, ALBERS SCHOENBERG DIS, Albers Schoenberg disease, Albers Schoenberg syndrome, Albers Schonberg, Albers Schönberg, Albers Schonberg disease, Albers Schönberg disease, Albers Schonberg syndrome, Albers Schoonberg syndrome, Albers Schoönberg syndrome, bones marble, Congenital osteopetrosis, Disease Albers Schoenberg, Disease Marble Bone, IVORY BONES, marble bone, MARBLE BONE DIS, Marble Bone Disease, marble bones, Osteopetroses, Osteopetrosis, Osteopetrosis congenita type, Osteopetrosis (disorder), Osteopetrosis (dup) (disorder), Osteopetrosis generalisata, osteosclerosis fragilis, OSTEOSCLEROSIS GENERALIZED CONGENITAL, Synonym/Albers-Schonberg disease, Synonym/Ivory bones disease, Synonym/Marble bones syndrome
- Treatment
- Drug Therapy - Indication
- RX/Gamma interferon (Actimmune)
- SX/Bone marrow transplant
- SX/Stem cell transplant/allogenic
- SX/Stem-cell transplant
- Definition
-
Marble bone disease; Excessive formation of dense trabecular bone leading to pathological fractures, OSTEITIS, SPLENOMEGALY with infarct, ANEMIA, and extramedullary hemopoiesis -------------------------- Osteopetrosis; Albers-Schonberg Disease; Marble Bones
Osteosclerosis Fragilis Generalisata; Osteopetrosis, autosomal dominant; adult type; Osteopetrosis, autosomal recessive; malignant infantile type ; Osteopetrosis, mild autosomal recessive; intermediate type; Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities; Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone;There are three major types of osteopetrosis: the malignant infantile form, the intermediate form, and the adult form; The adult form is milder than the other forms, and may not be diagnosed until adolescence or adulthood when symptoms first appear; The intermediate form, found in children younger than ten years old, is more severe than the adult form but less severe than the malignant infantile form; The malignant infantile form is apparent from birth and frequently shortens life expectancy; It is not related to cancer, despite the name --------------[NORD]-----------------------------
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- External Links Related to Osteopetrosis (Albers-Schonberg)
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)