Altered Osteoclast, Osteoblast or Osteocyte Activity

Low Bone Resorption

Osteopetrosis, Autosomal recessive 1 (OPTB1)

Craniometaphyseal dysplasia is a genetic syndrome involving cranial and tubular bone anomalies that commonly present at young age, in particular with otolaryngologic manifestations. 

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Osteopetrosis, Autosomal recessive 3 (OPTB3)

Osteopetrosis, Autosomal recessive 3, is a rare form of autosomal recessive osteopetrosis (see OPTB1) caused by homozygous or compound heterozygous mutation in the gene encoding carbonic anhydrase II (CA2 gene).

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Osteopetrosis, Autosomal recessive 5 (OPTB5)

Osteopetrosis, Autosomal recessive 5, is a form of autosomal recessive osteopetrosis (see OPTB1) caused by mutation in the gene encoding osteopetrosis-associated transmembrane protein-1 (OSTM1 gene).

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Osteopetrosis, Autosomal recessive 7 (OPTB7)

Osteopetrosis, Autosomal recessive 7, is a form of osteoclast-poor autosomal recessive osteopetrosis (see OPTB1), and it can be caused by mutation in the tumor necrosis factor receptor superfamily, member 11a (TNFRSF11A) gene.

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Osteopetrosis, Autosomal dominant 2 (OPTA2)

The autosomal-dominant adult type od Osteopetrosis, so-called ‘Albers-Schonberg disease’, is a benign form and it is associated with few symptoms. The disease is characterized by increased bone density, secondary to a bone resorption defect caused by abnormal osteoclasts. The onset occurs in adolescence or adulthood with variable penetrance.

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Pycnodysostosis (PYCD)

Pyknodysostosis is an autosomal recessive osteochondrodysplasia, first described in 1962 by Maroteaux and Lamy (Greek: pycnos = dense; dys = defective; osteon = bone). This disease is also called "Toulouse-Lautrec syndrome" after the famous French artist Henri de Toulouse-Lautrec, who was thought to be afflicted with the disorder.

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Ectodermal dysplasia, anhidrotic, immunodeficiency, osteopetrosis, lymphedema (OLEDAID)

Ectodermal dysplasia, anhidrotic, immunodeficiency, osteopetrosis, lymphedema is a rare disease characterized by anhidrotic ectodermal dysplasia, severe immunodeficiency, osteopetrosis and lymphedema.

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High Bone Resorption

Cystic Angiomatosis

Cystic angiomatosis is a nonaggressive form of skeletal angiomatosis with multifocal hemangiomatous and/or lymphangiomatous lesions of the skeleton, predominantly affecting the trunk bones, with possible visceral organ involvement. The exact pathogenetic mechanism of the disease is not still clear.

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Craniometaphyseal dysplasia, autosomal dominant (CMD)

Craniometaphyseal dysplasia is a genetic syndrome involving cranial and tubular bone anomalies that commonly present at young age, in particular with otolaryngologic manifestations. The first sign is usually a thick bony wedge over the bridge of the nose and glabella. Cranial nerve impairment is also common.

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Craniometaphyseal dysplasia, autosomal recessive (CMDR)

The autosomal recessive form of Craniometaphyseal dysplasia (see CMD) is less common and more severe than the dominant. Diaphyseal sclerosis is more apparent in the recessive form and can be found in adults.

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Familial expansile osteolysis (FEO)

Familial expansile osteolysis (FEO) is an extremely rare, autosomal dominant, bone dysplasia. Clinical manifestations include: early-onset deafness, tooth loss and progressive lytic expansion within several limb bones causing bone pain, deformity, and fracture, associated with high serum alkaline phosphatase (ALP) and urinary hydroxyproline (Ur OHP) concentrations.

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High Bone Formation

Sclerosteosis 1, autosomal recessive (SOST1)

Sclerosteosis is a severe autosomal-recessive sclerosing bone dysplasia, characterized by progressive skeletal overgrowth, distortion of the facies, and entrapment of cranial nerves (see also VBD).

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Van Buchem disease type 2, autosomal dominant (VBCH2)

Van Buchem disease type 2, autosomal dominant, is sclerosing bone dysplasia, that  can be caused by mutation in the Low-Density Lipoprotein Receptor-Related Protein-5 (LRP5) gene (see also VBD).

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Hyperostosis corticalis generalisata/Van Buchem disease (VBD)

Endosteal hyperostis include different uncommon disorders are included in this category, such as: the autosomal recessive conditions  (Hyperostosis corticalis generalisata/Van Buchem disease), as well as the autosomal dominant conditions (Van Buchem disease type 2, Osteosclerosis/endosteal hyperostosis), and the autosomal dominant - recessive conditions (Sclerosteosis 1-2).

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Osteosclerosis/endosteal hyperostosis, autosomal dominant

Osteosclerosis/endosteal hyperostosis, autosomal dominant, is a sclerosing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones without an increased risk of fracture (see also VBD).

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High bone mass (HBM) / Osteopetrosis, Autosomal Dominant 1 (OPTA1)

Osteopetrosis is an inherited disorder with a variety of genetic causes, resulting in abnormally high bone mass for dysfunctional bone remodeling. This bone disease is divided into two main groups: autosomal recessive and autosomal dominant types.

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Melorheostosis (associated with osteopokilosis)

Melorheostosis, also called "Leri disease", is a type of mixed sclerosing bone dysplasia, with alterations in both endochondral and intramembranous ossification. The radiographic findings are characterized by hardened wax that has dripped down the side of a candle.

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Camurati-Engelmann disease type 2

Camurati-Engelmann Disease Type II, called also "Progressive diaphyseal dysplasia with striations of the bones", is a rare sclerosing bone dysplasia. Until now, few clinical cases have been reported.

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Decreased Bone Formation

Common variable moderate Osteogenesis Imperfecta with normal sclerae (OI type IV)

Common variable moderate Osteogenesis Imperfecta with normal sclerae (OI type IV) is a moderate form of OI (see also OI type I). It is characterized by increased bone fragility, low bone mass (DEXA z-scores in the range of –3 to –5 SD), and susceptibility to bone fractures. Most fractures occur either prior to puberty or beyond middle age.

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Winchester-Torg syndrome

The inherited osteolysis syndromes are a heterogeneous group of diseases characterized by bone destruction and resorption. There are several forms of osteolysis described under a variety of designations with often overlapping clinical findings, and their classification is still a matter of debate. Torg syndrome, Winchester syndrome and Nodulosis Arthropathy Osteolysis syndrome (NAO) are three autosomal recessive inheritance osteolysis syndromes with multicentric involvement.

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Osteopetrosis, Autosomal recessive 2 (OPTB2)

Osteopetrosis, Autosomal recessive 2 is a genetic disease characterized by increased bone mass and density due to a failure in bone resorption. It is part of the group of autosomal recessive osteopetrosis, also called malignant infantile osteopetrosis (see OPTB1).

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Osteopetrosis, Autosomal recessive 4 (OPTB4)

Osteopetrosis, Autosomal recessive 4, is a form of autosomal recessive osteopetrosis (see OPTB1) caused by homozygous or compound heterozygous mutation in the Chloride Channel 7 (CLCN7 gene). CLCN7-dependent OPTB4 is diagnosed at birth or early in infancy due to generalized osteosclerosis and severe haematological deficits.

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Osteopetrosis, Autosomal recessive 6 (OPTB6)

Osteopetrosis, Autosomal recessive 6, is a form of autosomal recessive osteopetrosis (see OPTB1) caused by mutation in the PLEKHM1 (Pleckstrin homology domain-containing protein, family M, member 1) gene. The loss of function mutations in the PLEKHM1 gene underlie an intermediate form of human osteopetrosis.

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Osteopetrosis, Autosomal recessive 8 (OPTB8)

Osteopetrosis, Autosomal recessive 8, is a form of osteoclast-poor autosomal recessive osteopetrosis (see OPTB1), and it is caused by homozygous mutation in the sorting nexin 10 (SNX10) gene.

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Osteopetrosis and infantile neuroaxonal dystrophy

Osteopetrosis and infantile neuroaxonal dystrophy is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. There are rare cases reported with the association of neuroaxonal dystrophy and osteopetrosis.

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Dysosteosclerosis (DSS)

Dysosteosclerosis is an extremely rare form of osteopetrosis, presents in infancy or early childhood, with a poor prognosis. The disease is characterized by diffuse osteosclerosis, red-violet macular atrophy, platyspondyly and metaphyseal osteosclerosis with relative radiolucency of widened diaphyses.

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Cystic Angiomatosis of Bone/Gorham-Stout Disease (GSD)

Cystic angiomatosis of bone/Gorham-Stout disease (GSD), (also known as massive osteolysis, vanishing bone disease, and phantom bone disease) is a rare disease characterized by the proliferation of endothelial-lined vessels in bone, resulting in destruction of osseous matrix and absorption of bone and possible visceral involvement. 

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Craniodiaphyseal dysplasia, autosomal dominant (CDD)

Craniodiaphyseal dysplasia is a severe form of bone dysplasia, characterized by massive generalised hyperostosis and sclerosis, primarly involving the facial bones and the skull, leading to severe deformity.

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Familial hydiopatic hyperphosphatasia/juvenile Paget’s disease

Familial hydiopatic hyperphosphatasia, also called juvenile Paget’s disease of bone, is a rare autosomal recessive juvenile-onset form of Paget disease, characterized by markedly accelerated bone turnover caused by osteoprotegerin deficiency (for inactivating homozygous or compound heterozygous mutation in the TNFRSF11B gene).

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Focal Dermal Hypoplasia

Focal dermal hypoplasia, or Goltz-Gorlin syndrome, is a rare syndrome, which may affect many different organs such as eyes, bones (limb malformation, osteopathia striata, costovertebral abnormalities, slipt sternum, fibrous dysplasia of bone, syndactyly, polydactyly, “lobster-clawlike” oligodactyly, short stature), teeth, and skin. To date, more than 280 cases of FDH have been reported in the literature.

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Sclerosteosis autosomal dominant/recessive 2 (SOST2)

Sclerosteosis 2, autosomal dominant/recessive, is a sclerosing bone dysplasia caused by heterozygous or homozygous mutation in the Low density lipoprotein receptor related protein 4 (LRP4) gene (see also VBD). It has been described that the interaction of sclerostin with LRP4 is required to mediate the inhibitory function of sclerostin on bone formation (see also SOST1).

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Osteopathia striata with cranial sclerosis (OSCS)

Osteopathia striata is characterized by linear striations at the ends of long bones and in the iliac bones that can remain unchanged for years. The striations are parallel to the long axis of the bone and are typically described in areas of rapid growth such as the femur.

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Osteopoikilosis/ Buschke-Ollendorff syndrome (BOS)

Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder, characterized by multiple subcutaneous nevi or nodules (elastin-rich, elastoma, or collagen-rich, dermatofibrosis lenticularis disseminata, on histologic examination). Affected individuals also have osteopoikilosis. Osteopoikilosis is a disorder of endochondral ossification involving the secondary spongiosa.

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Hajdu-Cheney syndrome

Hajdu-Cheney syndrome is a very rare connective tissue disorder, caused by heterozygous mutation in the NOTCH2 gene. It has autosomal dominant inheritance or in some cases may occur due to spontaneous de novo mutation.

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Osteoporosis-pseudoglioma syndrome, autosomal recessive (OPPG)

Osteoporosis-pseudoglioma syndrome, autosomal recessive, (OPPG) is a very rare disease caused by homozygous or compound heterozygous mutation in the gene encoding low density lipoprotein receptor-related protein-5 (LRP5), with loss of LRP5 function and decreased osteoblast activity. 

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Osteogenesis imperfecta with calcification in interosseous membranes and/or hypertrophic callus (OI type V)

Osteogenesis imperfecta with calcification in interosseous membranes and/or hypertrophic callus (OI type V) is a moderate form of Osteogenesis Imperfecta (see also OI type I). It is a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity.

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Familial exudative vitroretinopathy (FEVR)

Familial exudative vitroretinopathy (FEVR) is an inherited disorder, caused by mutation in the LRP5 gene. FEVR is characterized by an abnormal development of the retinal vessels, particularly in the temporal retinal periphery, resulting to several variable manifestations, ranging from asymptomatic to complete blindness. 

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