Disease Information for Osteopetrosis (Albers-Schonberg)

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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)
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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