iPedia Free Information Center

Information about Osteopetrosis

Osteopetrosis (Malignant)
Classification & external resources
ICD-10Q78.2
ICD-9756.52
OMIM166600 259700
DiseasesDB9377
eMedicinemed/1692 


Osteopetrosis also known as marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to the more prevalent osteomalacia, in which the bones soften.

Cause

Normally, bone growth is a balance between osteoblasts (cells that create bone tissue) and osteoclasts (cells that destroy bone tissue). Sufferers of osteopetrosis have a deficiency of osteoclasts, meaning too little bone is being resorbed, resulting in too much bone being created.

Symptoms

Despite this excess bone formation, people with osteopetrosis tend to have bones that are more brittle than normal. Mild osteopetrosis may cause no symptoms, and present no problems. However, serious forms can result in stunted growth, deformity, increased likelihood of fractures, and anaemia. It can also result in blindness, facial paralysis, and deafness, due to the increased pressure put on the nerves by the extra bone.

Variations

There are three major clinical forms:
1. Autosomal recessive (malignant type)
2. Autosomal dominant (benign type)
3. Carbonic anhydrase II deficiency (Type 3 Renal tubular acidosis)

Treatment

There is no cure, although curative therapy with bone marrow transplantion is being investigated in clinical trials . It is believed the healthy marrow will provide the sufferer with cells from which osteoclasts will develop.

See also

External Links

 •  • [ e]
Congenital malformations and deformations of musculoskeletal system (Q65-Q79, )
LimbsDislocation of hip/Hip dysplasia - feet (Club foot, Flat feet, Pes cavus) - axis (Plagiocephaly, Scoliosis, Pectus excavatum, Pectus carinatum) - Genu varum - Polydactyly - Amelia - Phocomelia - Cleidocranial dysostosis - Madelung's deformity - Sprengel's deformity - Arthrogryposis
Skull and face bonesCraniosynostosis (Scaphocephaly) - Trigonocephaly - Oxycephaly - Crouzon syndrome - Hypertelorism - Macrocephaly - Treacher Collins syndrome - Platybasia
Spine and bony thoraxKlippel-Feil syndrome - Cervical rib - Bifid rib
Osteochondrodysplasiagrowth of tubular bones and spine (Achondrogenesis, Thanatophoric dysplasia, Short rib-polydactyly syndrome, Chondrodysplasia punctata {Rhizomelic chondrodysplasia punctata, Conradi-Huenermann syndrome}, Achondroplasia, Hypochondroplasia, Ellis-van Creveld syndrome, Spondyloepiphyseal dysplasia congenita) - Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Hereditary multiple exostoses
Otherabdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome
See also conditions (, )
For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.
List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
..... Click the link for more information.
For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


..... Click the link for more information.
The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.

It directly integrates the Unified Medical Language System.

External links

  • Diseases Database

..... Click the link for more information.
eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. It was sold to WebMD in January 2006.
..... Click the link for more information.
Rare is a word used to denote low numbers of abundance.

It can also refer to:
  • Rare species, a conservation category in biology designating the scarcity of an organism and implying a threat to its viability.

..... Click the link for more information.
Biological inheritance is the process by which an offspring cell or organism acquires or becomes predisposed to characteristics of its parent cell or organism. Through inheritance, variations exhibited by individuals can accumulate and cause a species to evolve.
..... Click the link for more information.
disease is an abnormal condition of an organism that impairs bodily functions. In human beings, "disease" is often used more broadly to refer to any condition that causes discomfort, dysfunction, distress, social problems, and/or death to the person afflicted, or similar problems
..... Click the link for more information.
Bones are rigid organs that form part of the endoskeleton of vertebrates. They function to move, support, and protect the various organs of the body, produce red and white blood cells and store minerals.
..... Click the link for more information.
Density and dense usually refer to a measure of how much of some entity is "in" a fixed amount of other space. Types of density include:

In physics:
  • Density, mass per volume

..... Click the link for more information.
Osteomalacia
Classification & external resources

ICD-10 M 83.
ICD-9 268.2

DiseasesDB 9351

eMedicine ped/2014   radio/610
MeSH D010018 Osteomalacia is a softening of the bones, resulting from defective bone mineralization.
..... Click the link for more information.
Growth refers to an increase in some quantity over time. The quantity can be physical (e.g., growth in height, growth in an amount of money) or abstract (e.g., a system becoming more complex, an organism becoming more mature). It can also refer to the mode of growth, i.e.
..... Click the link for more information.
An osteoblast (from the Greek words for "bone" and "germ" or embryonic) is a mononucleate cell that is responsible for bone formation. Osteoblasts produce osteoid, which is composed mainly of Type I collagen.
..... Click the link for more information.
An osteoclast (from the Greek words for "bone" and "broken") is a type of bone cell that removes bone tissue by removing the bone's mineralized matrix. This process is known as bone resorption.
..... Click the link for more information.
A deficiency is a lack of something.
  • In mathematics, a deficient number is a number n for which σ(n) < 2n.
  • In medicine there are a variety of nutrient deficiencies:

..... Click the link for more information.
bone fracture is a medical condition in which a bone breaks. A bone fracture can also occur as a result of certain medical conditions that weaken the bones, such as osteoporosis, certain types of cancer or Osteogenesis Imperfecta.

Any type of bone break is a fracture.
..... Click the link for more information.
Anemia
Classification & external resources

ICD-10 D 50. -D 64.
ICD-9 280 - 285

DiseasesDB 663
MedlinePlus 000560
eMedicine med/132   emerg/808 emerg/734
MeSH D000740

Anemia (AmE) or anæmia/anaemia
..... Click the link for more information.
Blindness is the condition of lacking visual perception due to physiological or neurological factors.

Various scales have been developed to describe the extent of vision loss and define "blindness.
..... Click the link for more information.
Paralysis is the complete loss of muscle function for one or more muscle groups. Paralysis often includes loss of feeling in the affected area.

Causes

Paralysis is most often caused by damage to the nervous system or brain, especially the spinal cord.
..... Click the link for more information.
deaf is used differently in different contexts, and there is some controversy over its meaning and implications. In scientific and medical terms, deafness generally refers to a physical condition characterized by lack of sensitivity to sound.
..... Click the link for more information.
A nerve is an enclosed, cable-like bundle of axons (the long, slender projection of a neuron). Neurons are sometimes called nerve cells, though this term is technically imprecise since many neurons do not form nerves, and nerves also include the glial cells that
..... Click the link for more information.
Carbonic anhydrase (carbonate dehydratase) is a family of metalloenzymes (enzymes that contain one or more metal atoms as a functional component of the enzyme) that catalyze the rapid conversion of carbon dioxide to bicarbonate and protons, a reaction that occurs rather
..... Click the link for more information.
MeSH D000141 Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately the urine.
..... Click the link for more information.
Hematopoietic stem cell transplantation (HSCT) is the transplantation of blood stem cells derived from the bone marrow (that is, bone marrow transplantation) or blood.
..... Click the link for more information.
Vacuolar type H+-ATPase (V-ATPase) is a highly conserved evolutionarily ancient enzyme with remarkably diverse functions in eukaryotic organisms.[1] V-ATPases acidifiy a wide array of intracellular organelles and pump protons across the plasma membranes of
..... Click the link for more information.
A congenital disorder is any medical condition that is present at birth. However, a congenital disorder can be recognized before birth (prenatally), at birth, years later, or never. The term congenital does not imply or exclude a genetic cause.
..... Click the link for more information.
The musculoskeletal system (also known as the locomotor system) is an organ system that gives animals the ability to physically move using the muscles and skeletal system.
..... Click the link for more information.
MeSH D006618 A dislocated hip is a condition that can be congenital or acquired. Congenital hip dislocations are much more common in girls than in boys.

Posterior vs. anterior

Nine out of ten hip dislocations are posterior.
..... Click the link for more information.
Hip dysplasia
Classification & external resources

ICD-10 Q 65.2
ICD-9 754.3

OMIM 142700
DiseasesDB 3056

MeSH D006618
For a different condition related to pre-cancerous changes in cellular structures, see Dysplasia.

..... Click the link for more information.


This article is copied from an article on Wikipedia.org - the free encyclopedia created and edited by online user community. The text was not checked or edited by anyone on our staff. Although the vast majority of the wikipedia encyclopedia articles provide accurate and timely information please do not assume the accuracy of any particular article. This article is distributed under the terms of GNU Free Documentation License.
Herod_Archelaus


page counter