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Diagnosis: Osteopetrosis

Synonyms: Albers-Schönberg disease, Marble bone disease


Publication date: 2013-06-05
Version 3.0

The disease

Osteopetrosis is a hereditary disease characterised by abnormally dense and brittle bones. The name comes from the Greek words for bone, osteo, and for stone, petros.

Bone is a live tissue in a continuous state of remodelling throughout life. In osteopetrosis, the balance between bone formation and breakdown is disturbed. New bone is formed but the breakdown of old bone tissue is impaired. Osteopetrosis presents in one of three forms: benign, malignant, and intermediate. There are also many variants of each form, each with its own genetic background. All types of osteopetrosis are characterised by hardened bones that become very brittle and break easily. Bone marrow failure is a serious complication associated with the infantile malignant form of the disease.

The disorder is also known as Albers-Schönberg disease, after the German radiologist Heinrich Albers-Schönberg, who published a description of the adult, benign form of osteopetrosis in 1904.

Neonates may occasionally present with transient infantile osteopetrosis, characterised by abnormally high bone density. The condition usually resolves on its own during the first year of life and does not require medical treatment.

Osteopetrosis with tubular acidosis is a very rare form that has never been diagnosed in Sweden. It is caused by an enzyme deficiency, and is less severe than the malignant form.

The information below primarily concerns infantile malignant forms that can cause severe disability and early death if left untreated.


Osteopetrosis occurs worldwide, although the prevalence of many forms varies geographically. One intermediate form, in many ways resembling malignant osteopetrosis, is associated with the northern Swedish county of Västerbotten.

The estimated incidence of malignant osteopetrosis in Sweden is 3 newborns per million, meaning that approximately one child with the condition is born every three years. These figures are also valid for the Västerbotten variant.

As many individuals with benign osteopetrosis remain asymptomatic and lead completely normal lives, the incidence rate is largely unknown. The condition is usually discovered by chance, for example in X-rays taken to assess a fracture. In Denmark, the prevalence of benign osteopetrosis has been estimated to 50 individuals per million population. Assuming the same numbers apply to Sweden, approximately 400 Swedish individuals are affected.


The cause of malignant osteopetrosis has been identified in 75 per cent of all cases. The condition exists in several forms, all characterised by impaired or in rare cases absent osteoclasts, the cells responsible for breaking down and remodelling bone. Osteopetrosis has been found in several mammalian species, and the disease mechanisms have often been studied in animals.

Gene Protein Chromosome Other symptoms besides osteopetrosis
TCIRG1 TCIRG 11q13.2 Some children have hypogammaglobulinemia
CLICN7 CLCN7 16p13.3 CNS-injury and developmental delay
OSTM1 OSTM1 6q21 CNS-injury and developmental delay
TNFSF11 RANKL 13q14.11
TNFRSF11A RANK 18q21.33
SNX10 SNX10 7p15.2
PLEKHM1 PLEKHM1 17q21.31
NEMO IKKa Xq28 Ectodermal dysplasia
CAII CAII Kidney damage with tubular acidosis

Table: The forms listed below the line result in milder forms of osteopetrosis

Osteoclasts are white blood cells that originate from macrophages, another type of white blood cell. They are phagocytes, meaning that they ingest foreign matter and debris such as bacteria and damaged cells (phago= eating, cytes=cell). Osteoclasts are phagocytes specialised in breaking down bone. Like all blood cells, osteoclasts are produced in the bone marrow and hematopoietic stem cell transplantation is therefore a viable cure for osteopetrosis (see under “Treatment/interventions”).

Osteoclasts degrade bone by attaching to its surface like a suction cup (see figure below). A sealed-off compartment is created between the osteoclast and the bone, into which the osteoclast pumps out hydrogen ions (through a proton pump) and chloride ions (through the chloride ion channel). These ions combine to form hydrochloric acid, which decalcifies bone. The osteoclasts also produce enzymes and hydrogen peroxide, which contribute to breaking down bone tissue. The most common form of malignant osteopetrosis is associated with an impaired proton pump. One of the pump’s protein constituents, TCIRG1, is absent in approximately 50 per cent of all children with malignant osteopetrosis. The defect is caused by a mutation in the gene that codes for this protein.

Approximately 15 per cent of those with malignant osteopetrosis lack a protein known as CLCN7 in the chloride ion channel. This defect results from a mutation in the CLCN7 gene. A few per cent of all cases of malignant osteopetrosis are caused by a mutation of a gene known as OSTM1 that codes for the protein OSTM1 (osteopetrosis associated transmembrane protein 1). This protein plays a role in placing CLCN7 in the cell membrane. Deficiency of the proteins PLXHM1 or SNX10 also causes osteopetrosis. The underlying genes are PLXHM1 and SNX10, both of which transport other proteins to their position in the cell. A mutation in SNX10 also causes the Västerbotten form.

The protein carboanhydrase II produces hydrogen ions for delivery to the proton pump. Mutations in the CAII gene, which regulates the production of carboanhydrase II, impair the proton pump and thereby cause osteopetrosis.

A few children have been found to have a mutation of the TNFSF11 gene, which codes for a protein known as RANKL. RANKL regulates the growth of osteoclasts and is produced, for example, by bone-forming cells. These children have insufficient numbers of functioning osteoclasts (osteoblasts). As an essential growth factor is absent, few or no osteoclasts are formed. For this reason haematopoietic stem cell transplantation is not a viable cure for these children, as the transplanted osteoclast precursors rely on this growth factor to develop. A treatment option that may be viable in the future would be a supplement of RANKL.

In the remaining cases of the malignant form, the cause of impaired osteoclast function is still unclear. The benign form is also caused by a mutation of the CLCN7 gene, but only about 75 per cent of those affected develop any symptoms.

Impaired function of any of the proteins that underlie osteopetrosis often result in other symptoms, for example developmental delay with central nervous system damage in cases of CLCN7 and OSTM1 mutations. There is no known cause of the disorder. Some TCIRG1 mutations result in low immunoglobulin levels (hypogammaglobulinemia). A suggested cause is that this gene regulates two different proteins, one of which plays a role for osteoclast function, and the other for the immune system’s production of immunoglobulins. In cases of CAII mutations, the ability of the kidneys to acidify urine is affected, which results in kidney damage.

Figure: The osteoclast proton pump and chloride ion channel. The figure shows an osteoclast attached to the surface of the bone.

Figure: The osteoclast proton pump and chloride ion channel. The figure shows an osteoclast attached to the surface of the bone. The inset image is a magnified osteoclast cell membrane showing a schematic proton pump and chloride ion channel.


As a rule, the inheritance pattern of malignant osteopetrosis and the Västerbotten form is autosomal recessive. This means that both parents are healthy carriers of a mutated gene. In each pregnancy there is a 25 per cent risk that the child will inherit double copies of the mutated gene (one from each parent), in which case the child will have the disease. In 50 per cent of cases the child inherits only one mutated gene (from one parent only) and like both parents, will be a healthy carrier of the mutated gene. In 25 per cent of cases the child will not have the disease and will not be a carrier of the mutated gene.

Figure: Autosomal recessive inheritance

A person with an inherited autosomal recessive disease has two mutated genes. If this person has a child with a person who is not a carrier of the mutated gene, all the children will inherit the mutated gene but they will not have the disorder. If a person with an inherited autosomal recessive disease has children with a healthy carrier of the mutated gene (who has one mutated gene) there is a 50 per cent risk of the child having the disorder, and a 50 per cent risk of the child being a healthy carrier of the mutated gene.

The inheritance pattern of benign osteopetrosis is autosomal dominant. This means that one of the parents has the disease, and so has one normal gene and one mutated gene. Sons and daughters of this parent have a 50 per cent risk of inheriting the disease. Children who do not inherit the mutated gene do not have the disease and do not pass it down.

Figure: Autosomal dominant inheritance


All forms of osteopetrosis result in heavy, dense, and brittle bones that fracture easily. In severe variants, symptoms arise as a consequence of unconstrained bone growth, affecting nerves and blood vessels and crowding the hollow centre of the bone.

Malignant osteopetrosis is evident at birth, and an X-ray examination will reveal abnormally dense and calcified bones. Skeletal abnormalities are obvious at birth and symptoms from several organs present within weeks or about a month, as they are affected by the bone anomalies. The bone marrow - and consequently blood production - is affected. The visual and auditory nerves pass through canals in the bone, and as they become compressed nerve damage results. Left untreated the condition may cause blindness and deafness.

Skeletal symptoms

Enlarged cranial bones give the head a characteristic appearance, with a large, rounded forehead. The eye sockets are shallow, extending the distance between the eyes and making them protrude. The nose is often flat, decreasing the size of the nasal cavity and leading to frequent congestion. Sometimes the cranial sutures close prematurely, resulting in an abnormal head shape. In rare cases brain growth is inhibited, necessitating surgical intervention.

The head and body are unusually heavy, and balance problems may result. Sitting up is often difficult, and these children learn to walk late, if at all. A side effect of restricted mobility is that bone fractures are less common than might be expected. The bones of severely affected infants may fracture during delivery.

As teeth develop from bone tissue, both primary and permanent dentition are often affected. It is common that several teeth fail to erupt and tooth enamel may be of poor quality and vulnerable to caries.

Blood calcium levels may be abnormally low owing to increased bone calcification. Only rarely, however, are they so low that symptoms arise in the form of muscle cramps.

Symptoms from the nervous system

All children with malignant osteopetrosis have poor vision, owing to compression of the optic nerve, which passes through the cranial bone. Some children become completely blind, in many cases before the age of 3-4 months. The auditory and balance nerves may be compressed, impairing hearing and balance. Other cranial nerves may also be involved, affecting, for example, the facial muscles and the pharynx, resulting in poor control over facial expression and swallowing difficulties.

Intellectual disability

Some forms of osteopetrosis are associated with intellectual disability, usually severe. This is always the case in osteopetrosis resulting from CLCN7 or OSTM1 mutations. Occasionally TCIRG1 mutations may be associated with mild to moderate intellectual disability.

Haematological symptoms

The production of blood cells takes place in the bone marrow (the tissue comprising the centre of long bones). When abnormal bone growth compresses the marrow, blood cell production is affected and blood counts decrease. The thrombocyte count may drop dramatically, increasing the risk of spontaneous bleeding or bleeding from trivial injuries. If the concentration of white blood cells also decreases, the child will have recurrent infections, particularly bacterial infections. There is a high risk of developing severe infections such as sepsis, and osteomyelitis (an infection of the bone). The latter condition typically presents in the lower jaw, probably as a result of the abnormal toothbuds being vulnerable to bacteria.

The body compensates for bone marrow failure to some extent by switching blood production to the spleen and liver, resulting in organ enlargement and a severely distended abdomen.

Unless haematopoietic stem cell transplantation is performed (see under “Treatment/interventions”), the prognosis is poor and these children seldom live beyond the age of 6-8 years. Forms of the disease associated with vision problems and/or bone marrow failure before the age of 3 months have a poor prognosis, and unless transplanted, these children rarely reach the age of 1.

In the most common form of osteopetrosis, caused by TCIRG1 mutations, some children have low levels of immunoglobulins (hypogammaglobulinemia). It is not known whether this explains why these children develop severe infections such as osteomyelitis.

The Västerbotten form

The symptoms of this form of osteopetrosis resemble those of malignant osteopetrosis, but the onset is slower and symptoms are less pronounced. The diffuse signs often delay diagnosis and treatment.

The severity of the symptoms varies. Some children have limited vision, while others become completely blind in their first year of life.

The head shape is often abnormal, but less distinctly so than in the malignant form of the disease. Nasal congestion, an early sign of malignant osteopetrosis, is not typical of the Västerbotten form.

As in the malignant form, the bone marrow is affected in most children, and the spleen and liver attempt to compensate for decreased blood cell production. The child’s quality of life may be compromised in the Västerbotten form as spleen enlargement is often severe, markedly distending the abdomen and disturbing gastro-intestinal functions.

The prognosis varies from case to case, but many children with the Västerbotten variant of osteopetrosis reach adulthood.

Benign autosomal dominant osteopetrosis

The severity of this form of osteopetrosis also varies. The most common form is very mild. Symptoms usually do not arise until the teens or early adulthood. Leg pain and bone fractures may occur, but in most cases the disease is discovered by chance in an X-ray performed for another medical reason. The images will reveal abnormally calcified bone. X-rays of the spine and the cranial bones are particularly helpful in making the diagnosis.

The prognosis is good and benign osteopetrosis rarely affects quality of life or life expectancy.


A routine X-ray will reveal abnormally dense bones. In the malignant form, typical radiological findings also include abnormalities in the growth zones of the long bones, and the facial bones have a mask-like appearance, known as “signe de masque” or “batman sign”.

A bone marrow examination is performed to check the number of osteoclasts, which is normal or increased in all forms of osteopetrosis except the one caused by a mutation of the TNFSF11 gene. When there is a TNFSF11 mutation and a deficiency of RANKL there are few, if any, osteoclasts.

DNA-based diagnosis is possible. In approximately three quarters of all malignant cases the diagnosis can be confirmed by DNA analysis of the genes currently known to underlie the disease. At the time of diagnosis the family should be offered genetic counselling. Carrier and prenatal diagnostics, as well as pre-implantation genetic diagnostics (PGD) in association with IVF (in vitro fertilization), are available in families where the mutation is known.

The diagnosis of the Västerbotten variant is often delayed. One reason is that the appearance of these children is less distinct than in the malignant variant, and frequently remains inconspicuous. The parents have often expressed concern about minor abnormalities, but the investigation has primarily sought a neurological background, such as hydrocephalus, in which case computer tomography (generating three-dimensional images) or magnetic resonance imaging (MR) is performed. These examinations are valuable in diagnosing hydrocephalus, but are less useful in detecting bone abnormalities. Failure to associate vision problems with the abnormal skull shape is another factor that contributes to delaying the diagnosis.


The only curative treatment for malignant osteopetrosis and the Västerbotten variant is hematopoietic stem cell transplantation. The intervention must be carried out at a very early stage, before nerve damage has occurred. If a suitable donor is found and the transplantation is carried out early, the results are usually excellent. It is important to observe that the rare form of malignant osteopetrosis caused by a TNFSF11 mutation cannot be cured by stem cell transplantation, and that this variant therefore must be excluded before transplantation is considered. Neither is transplantation recommended if the child has severe intellectual disability.

While waiting for transplantation or if transplantation is not a viable option for some reason, gamma interferon treatment may provide an alternative. Interferon is a substance naturally produced by the immune system (the white blood cells). It stimulates white cell (including osteoclast) production of hydrogen peroxide, a substance required for bone degradation. Stimulating bone degradation sometimes delays the progression of the disease. However, treatment results remain inconsistent and controversial.

All infections must be taken seriously and treatment should begin early. Antibiotics should be given in all cases of bacterial infection. The risk of osteomyeilitis should be particularly considered.

Anaemia can be treated with iron. In very rare cases of severe thrombocytopenia complicated by a tendency to excessive bleeding, thrombocytes (platelets) may be administered in a transfusion. As a transfusion of thrombocytes has very short-term effects, it should be given only in cases of severe bleeding or before a surgical procedure. Surgical removal of the spleen can improve quality of life dramatically, particularly in patients with the Västerbotten form of the disease. However, relief may be only temporary if liver enlargement arises as a consequence of the liver taking over blood production. The risk of bacterial infections also increases. A child whose spleen has been removed therefore requires careful monitoring. Special care must be taken to ensure that all vaccines normally administered have been given before surgery is performed. Pneumococcal vaccination is particularly important as these bacteria may cause life-threatening infections in individuals who have undergone spleen removal.

Physiotherapy is essential for supporting the development of motor skills. Abnormal bone mass and a large head may prevent or delay the child’s ability to balance the head or to sit and stand upright.

Having a child with malignant osteopetrosis or the Västerbotten form is very trying, and parents of children with malignant osteopetrosis or the Västerbotten variant should be offered psychological and social support. If parents wish, they should also be offered the opportunity to contact other families in a similar situation with whom they can share their experiences.

Haematopoietic stem cell transplantation

The only treatment known to cure osteopetrosis is stem cell transplantation. Blood is produced in the bone marrow. In the bone marrow there are blood stem cells (haematopoietic stem cells), which have the specific ability to produce all our different types of blood cells, including osteoclasts (the cells that do not function in osteopetrosis). In stem cell transplantation the sick individual’s stem cells are replaced with those from a healthy person. To optimise the chances of successful transplantation, the recipient of the marrow should be as free from infection as possible and in good physical condition. For this reason, it is important to carry out the transplantation early, preferably before the age of six months in the malignant form, as this will increase the chances that serious damage has not yet occurred. The intervention itself is fairly simple, but the preparations, aftercare and major risks make it a highly demanding procedure.

In order to carry out a stem cell transplantation, a donor must be found whose tissue type (HLA type) matches that of the recipient. Ideally the tissue type should be identical. Tissue type is inherited from both parents, and each child has a 25 per cent chance of having the same tissue type as a sick sibling. The optimal solution is to transplant stem cells from an HLA-identical, healthy sibling. If this is not possible a suitable donor may be located in national and international bone marrow donor programmes or in stored, frozen blood from umbilical cords. The “Tobias Registry” in Sweden contains approximately 40,000 registered voluntary donors, and the names of more than 20 million other donors can be found in registers outside Sweden.

Preparatory measures are needed to help the new stem cells engraft and to minimise the risk of diseased cells attacking the new donor cells. The recipient of the transplanted cells is treated with chemotherapy. This treatment can be extremely trying as chemotherapy also impairs the barrier function of the mucous membranes. There is a major risk of developing serious infection and for this reason the child needs to be kept in isolation for a period of weeks, or sometimes months prior to and after the transplantation.

In a blood stem cell transplantation, bone marrow is drawn from the donor’s hip bone and is then administered to the recipient via drip, directly into the bloodstream, much like in a blood transfusion. Blood stem cells can also be collected from the donor’s blood. The blood is then filtered in a special kind of centrifuge which separates the stem cells from the rest of the blood, which can then be returned to the donor. A third option is to use umbilical cord blood from newborns, which is particularly rich in blood stem cells. The blood of newborns has very high levels of blood stem cells and the small amount of blood remaining in the umbilical cord of a healthy newborn can be frozen and saved for later transplantations.

Regardless of their source, the transplanted blood stem cells find their way into the bone cavities of the recipient, and grow in the bone marrow to supply the child with a new immune system.

Individuals who have undergone haematopoietic stem cell transplantation are treated temporarily with immunosuppressive drugs, and will continue to have regular medical check-ups throughout life. These are necessary to identify any signs of rejection (graft-versus-host reaction, GvH), or other complications, and to see that the immune system recovers as expected. There may also be other, disease-specific, reasons for scheduling regular check-ups. In osteopetrosis these include dental problems, as the tooth buds are damaged before the transplantation is carried out.

Benign osteopetrosis

The most common form is mild, and treatment is primarily managed by informing individuals with the condition about the risk of bone fractures, even in minor accidents. Although leisure and work activities involving high risk should be avoided, individuals with benign osteopetrosis live essentially normal lives. Standard orthopaedic interventions are used to heal fractures.

Practical advice


National and regional resources in Sweden

Paediatric Immunology Unit, The Queen Silvia Children’s Hospital in Gothenburg.

Expertise in orofacial problems can be found at Mun-H-Center, Institute of Odontology, Medicinaregatan 12A, SE-413 90 Gothenburg, Sweden. Tel: +46 31 750 92 00, fax: +46 31 750 92 01, email: mun-h-center@vgregion.se, www.mun-h-center.se.

Resource personnel

Professor Anders Fasth, The Queen Silvia Children’s Hospital, SE-416 85 Gothenburg, Sweden. Tel: +46 31 343 40 00, fax: +46 31 84 30 10, email: anders.fasth@gu.se.

Courses, exchanges of experience, recreation


Organizations for the disabled/patient associations etc.

SRF, The Swedish Association of the Visually Impaired, Sandsborgsvägen 52, SE-122 88 Enskede, Sweden. Tel: +46 8 39 90 00, fax: +46 8 39 93 22, email: info@srf.nu, www.srf.nu.

PIO, The Primary Immunodeficiency Organisation in Sweden, Mellringevägen 120 B, SE-703 53 Örebro, Sweden. Tel: +46 19 673 21 24, email: info@pio.nu, www.pio.nu.

Courses, exchanges of experience for personnel

The European Society for Immunodeficiency (ESID) is a resource for psysicians and researchers interested in osteopetrosis. ESID publishes a newsletter and arranges conferences every second year. Contact person is Professor Anders Fasth (see under “Resource personnel”).

Research and Development

Anna Villa, MD, Palazzo LITA, Via Fratelli Cervi 93, 20090 Segrate, Milan, is head of the research group that identified the genes underlying malignant osteopetrosis.

The group continues its work on clarifying the hereditary mechanisms of osteopetrosis.

Associate Professor Johan Richter, Lund University, Sweden, is head of a research group developing a method to treat malign osteopetrosis caused by TCIRG1 mutations with gene therapy.

Information material

Short summaries of all the information texts in the Rare Disease Database of the National Board of Health and Welfare are available as leaflets, in Swedish only. They can be printed out or ordered by selecting the Swedish version of each text, and then clicking on the leaflet icon which will appear under “Mer hos oss” in the column on the right-hand side.


Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Albayrak C, Albayrak D, Vanakker OM, de Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl J-S, Caldana E, lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. J Bone Mineral Res, 2012, in press.

Aguespack SGW, Koller DL, White KE, Fishburn T, Carn G, Buckwalter KA et al. Chloride channel 7 (CLCN7) gene mutations and autosomal dominant osteopetrosis, Type II. J Bone Min Res 2003; 18: 1513-1518.

Aker M, Rouvinski A, Hashavia S, Ta-Shma A, Shaag A, Zenvirt S et al. An SNX10 mutation causes malignant osteopetrosis of infancy. J Med Genet 2012; 49: 221-226.

Albers-Schönberg HE. Röntgenbilder einer seltenen Knochenerkrankung. Münchener medizinische Wochenschrift 1904; 51: 365.

Askmyr MK, Fasth A, Richter J. Towards a better understanding and new therapeutics of osteopetrosis. Br J Haematol 2008; 140: 597-609.

Bollerslev J, Andersen PE. Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone 1988; 9: 7-13.

Driessen GJA, Gerritsen EJA, Fischer A, Fasth A, Hop WJC, Veys P et al. Long-term outcome of haematopoietic stem cell transplantation in autosomal recessive osteopetrosis: an EBMT report. Bone Marrow Transplant 2003; 32: 657-663.

Enell H, Pehrson M. Studies on osteopetrosis. I. Clinical report of three cases with genetic considerations. Acta Paediatr Scand 1958; 47: 279-287.

Fasth A. Osteopetrosis - more than only a disease of the bone. Commentary. Am J Hematol 2009; 84: 469-470.

Fasth A, Porras O. Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 1999; 3: 102-107.

Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattson JP et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000; 25: 343-346.

Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M et al. Chloride channel CLCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res 2003; 18: 1740-1747.

Gerritsen EJA, Vossen JM, van Loo IHG, Hermans J, Hlefrich MH, Griscelli C et al. Autosomal recessive osteopetrosis: Variability of findings at diagnosis and during the natural course. Pediatrics 1994; 93: 247-253.

Johansson MK, de Vries TJ, Schoenmaker T, Ehinger M, Brun AC, Fasth A et al. Hematopoietic stem cell-targeted neonatal gene therapy reverses lethally progressive osteopetrosis in oc/oc mice. Blood 2007; 109: 5178-5185.

Kornak U, Schulz A, Friedrich W, Uhlhaas S, Kremens B, Voit T et al. Mutations in the a3 subunit of the vacuolar H(+)-ATPase cause infantile malignant osteopetrosis. Hum Mol Genet 2000; 9: 2059-2063.

Loría Cortés R, Quesada Calv E, Cordero Chaverri C. Osteopetrosis in children. A report of 26 cases. J Pediatr 1977; 91: 43-47.

Monaghan BA, Kaplan FS, August CS, Fallon MD, Fiannery DB. Transient infantile osteopetrosis. J Pediatr 1991; 118: 252-256.

Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L et al. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet 2007; 39: 960-962.

Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009; 20: 4-5.

Steward CG, Pellier I, Mahajan A, Ashworth MT, Stuart AG, Fasth A. Severe pulmonary hypertension: a frequent complication of stem cell transplantation for malignant infantile osteopetrosis. Br J Haematol 2004; 124: 63-71.

Teitelbaum SL, Ross FP. Genetic regulation of osteoclast development and function. Nature Genet Rev 2003; 4: 638-649.

Waguespack SG, Koller DL, White KE, Fishburn T, Carn G, Buckwalter KA et al. Chloride channel 7 (CLCN7) gene mutations and autosomal dominant osteopetrosis, type II. J Bone Miner Res 2003; 18, 1513-1518.

Database references

OMIM (Online Mendelian Inheritance in Man)
Search: osteopetrosis

GeneReviews (University of Washington)
www.genetests.org (find GeneReviews, then Titles)
Search: CLCN7-related osteopetrosis

Document information

The Swedish Information Centre for Rare Diseases produced and edited this information material.

The medical expert who wrote the draft of this information material is Professor Anders Fasth, The Queen Silvia Children’s Hospital, Gothenburg, Sweden.

The relevant organisations for the disabled/patient associations have been given the opportunity to comment on the content of the text.

An expert group on rare diseases, affiliated with the University of Gothenburg, approved the material prior to publication.

Publication date: 2013-06-05
Version: 3.0
Publication date of Swedish version: 2012-11-29

For enquiries contact The Swedish Information Centre for Rare Diseases, The Sahlgrenska Academy at the University of Gothenburg, Box 422, SE-405 30 Gothenburg, Sweden. Tel: + 46 31 786 55 90, email: ovanligadiagnoser@gu.se


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This knowledge database provides information on rare diseases and conditions. The information is not intended to be a substitute for professional medical care, nor is it intended to be used as a basis for diagnosis or treatment.