Bone Dysplasia: Causes & Reasons

Possible Causes for Bone Dysplasia

Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome

FILS phenotype was variable but included macrocephaly, recurrent respiratory infections, livedo and telangiectasia, bone dysplasia, short stature, and decreased IgM and IgG [link.springer.com]

The defects found in phagocytes with their respective bone findings have been listed in Table 5. [symbiosisonlinepublishing.com]

[…] regurgitation Holoprosencephaly Aplasia/Hypoplasia of the cerebellum Myelodysplasia Bifid scrotum Relative macrocephaly Nephroblastoma Abnormality of immune system physiology Bone [mendelian.co]

Severe Short Stature

RESULTS: We introduce the design considerations and implementation details of the Bone Dysplasia Ontology. [ncbi.nlm.nih.gov]

The clinical, radiographic, and genetic findings in father and son are consistent with a sclerosing skeletal dysplasia syndrome with similarities to mixed sclerosing bone [ncbi.nlm.nih.gov]

KD is bent-bone skeletal dysplasia that, in contrast to campomelic dysplasia, involves principally the femora with relative sparing of the remainder of the skeleton. [ncbi.nlm.nih.gov]

Melorheostosis

PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. [ncbi.nlm.nih.gov]

Melorheostosis is a linear bone dysplasia of unknown origin that may be associated with soft-tissue alterations. [ncbi.nlm.nih.gov]

J Bone Joint Surg Br. 1985;67:133–7 PubMed Google Scholar 5. Greenspan A, Azouz EM. Bone dysplasia series melorheostosis: review and update. [link.springer.com]

Fibrous Dysplasia

& JOINTS Atlas_Id 5093 Phylum Bones::Fibrous dysplasia WHO/OMS Classification Bones Note In the major text-books on bone pathology, fibrous dysplasia (FD) is regarded as [atlasgeneticsoncology.org]

[…] fibrous dysplasia of bone noun a disturbance in which bone that is undergoing lysis is replaced by an abnormal proliferation of fibrous tissue resulting in bone lesions or [fi.glosbe.com]

Fibrous dysplasia is a disorder where normal bone and marrow is replaced with fibrous tissue, resulting in formation of bone that is weak and prone to expansion. [en.wikipedia.org]

Florid Cemento-Osseous Dysplasia

BACKGROUND: Infection, neoplasia and bone dysplasias cause alteration in bone architecture. [ncbi.nlm.nih.gov]

Bone dysplasia: presentation of an incidental radiological finding. Swiss Dental J. 2018 Feb 12;128:142-143. [Accessed 2022 Mar 02]. [mbmj.org]

Infection, neoplasia and bone dysplasias cause alteration in bone architecture. [scienceopen.com]

Carpotarsal Osteochondromatosis

dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.Visit the Orphanet disease page for more resources. [malacards.org]

Torrance type Polyostotic fibrous dysplasia Prenatal benign hypophosphatasia Primary bone dysplasia Primary bone dysplasia with decreased bone density Primary bone dysplasia [se-atlas.de]

Orpha Number: 2767 Disease definition Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas [rarediseases.info.nih.gov]

Hip Dysplasia Type Beukes

Orphanet Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. [rarediseases.oscar.ncsu.edu]

Homepage Rare diseases Search Search for a rare disease Hip dysplasia, Beukes type Disease definition Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized [orpha.net]

Ultrasonography of the hip in developmental hip dysplasia. The Journal of Bone and Joint Surgery, 80(2), pp.321-324. [citethisforme.com]

Schwartz-Jampel Syndrome

Type Ia is usually recognized in childhood and is associated with moderate bone dysplasia. [accesspediatrics.mhmedical.com]

bone dysplasia and type 2, a rare, more severe form with increased mortality in the neonatal period. [ncbi.nlm.nih.gov]

dysplasia. [semanticscholar.org]

Cleidocranial Dysplasia

Children's Memorial Hospital Abstract 5 year old female Keywords Cleidocranial dysplasia, dysostosis, clavicle defect, hypoplasia, wormian bones, plain film Publication Date [mirc.luriechildrens.org]

Both of the terms dysplasia and dysostosis may be considered correct since in CCD, bone malformation (dysplasia) results from defective ossification (dysostosis). [symptoma.com]

References Spranger, J., Brill, P., Poznanski, A., BONE DYSPLASIA: An Atlas of Genetic Disorders of Skeletal Development, 2nd Ed., Oxford Press, 2002, 41. [mirc.luriechildrens.org]

Adamantinoma

Abstract Adamantinoma of long bones (ALB) and osteofibrous dysplasia (OFD) are rare osteolytic bone tumours that principally arise in the tibia. [ncbi.nlm.nih.gov]

Lane 1, adamantinoma of long bones; lane 2, osteofibrous dysplasia; and lane 3, osteofibrous dysplasia-like adamantinoma of long bones. [nature.com]

Adamantinoma, a rare bone lesion of the tibia and fibula, has two distinct variants, classic adamantinoma and osteofibrous dysplasia-like adamantinoma. [ncbi.nlm.nih.gov]

Pyle's Disease

Keywords Affected Sibling Tubular Bone Semantic Confusion Metaphyseal Dysplasia Sclerosing Bone Dysplasia These keywords were added by machine and not by the authors. [link.springer.com]

Disease definition A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the [orpha.net]

A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am. J. Dis. Child., 113:214, 1967. ‎ [books.google.es]

Mazabraud Syndrome

Bone pain is a common complication of fibrous dysplasia. [en.wikipedia.org]

Fibrous dysplasia Sample pathology report Bone, biopsy: Fibrous dysplasia of bone (see comment) Comment: Fibrous dysplasia is most commonly sporadic but is also a typical [pathologyoutlines.com]

Objective: Mazabraud's syndrome is a rare form of bone fibrous dysplasia associated with intramuscular myxomas. [eurekaselect.com]

Bone Fibroma

Fibrous dysplasia : Tends to occupy a longer segment of bone than desmoplastic fibroma, has a mineralized matrix, and may have a sclerotic rim. [roentgenrayreader.blogspot.com]

In fibrous dysplasia the bone to fibrous tissue ratio is rather uniform. 3. [drtbalu.wikidot.com]

Bone dysplasias a. Fibrous dysplasia i. Monostotic ii. Polyostotic iii. Polyostotic with endocrinopathy (McCune-Albright) iv Osteofibrous dysplasiaa b. [intechopen.com]

Bonnemann-Meinecke-Reich Syndrome

[…] development disorder Bone dysplasia Azouz type Bone dysplasia corpus callosum agenesis Bone dysplasia lethal Holmgren type Bone dysplasia Moore type Bone fragility craniosynostosis [bionity.com]

Bowing of long bones congenital Boylan Dew Greco syndrome Bq-Bt Brachioskeletogenital syndrome Brachman-de Lange syndrome Brachycephalofrontonasal dysplasia Brachycephaly [bioreference.net]

Bone development disorder[?] Bone dysplasia Azouz type[?] Bone dysplasia corpus callosum agenesis[?] Bone dysplasia lethal Holmgren type[?] Bone dysplasia Moore type[?] [encyclopedia.kids.net.au]

Spondyloepiphyseal Dysplasia Congenita

Spondyloepiphyseal dysplasia congenita. Radiology 94, 313–322 (1970) Google Scholar Spranger, J. W., Langer, L. O., Wiedemann, H. R.: Bone dysplasias. [link.springer.com]

Spondyloepiphyseal dysplasia congenita is an inheritable bone dysplasia causing abnormalities that manifest at birth and primarily involve the spine and proximal epiphyses [ncbi.nlm.nih.gov]

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities [en.wikipedia.org]

Calvarial Doughnut Lesions - Bone Fragility Syndrome

Osteocraniosteosis ; Section XV Dense Bone Dysplasias with Normal Bone Shape ; 94. Blomstrand Dysplasia ; 95. [amazon.de]

Osteocraniosteosis Section XV Dense Bone Dysplasias with Normal Bone Shape 94. Blomstrand Dysplasia 95. [axon.es]

Dysplasias 541 Chapter 21 Parathyroid Disorders 557 Chapter 22 Fibrous Dysplasia 589 Chapter 23 Nutritional Rickets 625 Chapter 24 Metabolic Bone Disease in the Neonatal [books.google.de]

Craniometadiaphyseal Dysplasia

This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities [books.google.de]

[…] corticalis generalisata ( van Buchem syndrome ) intramedullary osteosclerosis melorheostosis metaphyseal dysplasia ( Pyle disease ) mixed sclerosing bone dysplasia Nakamura [radiopaedia.org]

Sclerosing bone dysplasias comprise a heterogeneous group of disorders ( skeletal dysplasias ) united by the presence of sclerosis of one form or another. [radiopaedia.org]

Platyspondyly

However, involvement of the long tubular bones and round bones, as well as pelvic and scapular involvement, delineates a previously unreported bone dysplasia. [rrnursingschool.biz]

Kniest syndrome (autosomal dominant; kyphoscoliosis, shortened tubular bones). Metatrophic dysplasia (severe kyphoscoliosis, narrow chest, metaphyseal flaring). [fetalultrasound.com]

Abstract A mother and daughter with metacarpal and metatarsal asymmetry, tarsal and carpal fusions, long bone articular dysplasia and platyspondyly are reported as a possible [ncbi.nlm.nih.gov]

Boomerang Dysplasia

Atelosteogenesis I (AT-I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. [ncbi.nlm.nih.gov]

Abstract Atelosteogenesis I (AT‐I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. [doi.org]

Within these categories pathogenetically related bone dysplasia families can be discerned. [onlinelibrary.wiley.com]

McCune-Albright Syndrome

It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation Fibrous dysplasia of bone affecting [icd9data.com]

Corrective surgery can be performed for bone dysplasia. [ijp.mums.ac.ir]

CrossRef Bianco P, Robey PG, Wientroub S: Fibrous dysplasia. Pediatric Bone: Biology and Disease. [springermedizin.de]

Parietal Foramina with Cleidocranial Dysplasia

PMID: 6720648 Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations. Cunningham ML, Seto ML, Hing AV, Bull MJ, Hopkin RJ, Leppig KA. [pubmed.ncbi.nlm.nih.gov]

Melorheostosis SP Osteopoikilosis AD Mixed sclerosing bone dysplasia SP 27. [gamuts.isradiology.org]

Abnormal ossification of the hyoid bone in cleidocranial dysplasia. Can Assoc Radiol J 1993; 44: 277–9 PubMed Google Scholar Seow WK, Hertzberg J. [link.springer.com]

Parastremmatic Dwarfism

KYPHOSCOLIOSIS ANKYLOSIS SPINE MALFORMATION BONE DYSPLASIA BONE DISEASE HEREDITARY PARASTREMMATIC DWARFISM BONE AND JOINT DISEASES Keyword (es) OSTEO ATICULAR PATOLOGIA Classification [pascal-francis.inist.fr]

A rare autosomal dominant bone dysplasia (OMIM:168400) characterised by severe dwarfism, kyphoscoliosis, bowing of extremities and contractures of large joints. [medical-dictionary.thefreedictionary.com]

ANKYLOSE RACHIS MALFORMATION DYSPLASIE OSSEUSE OSTEOPATHIE HEREDITAIRE NANISME PARASTREMMATIQUE PATHOLOGIE OSTEOARTICULAIRE Keyword (en) DEFORMATION INHERITANCE RADIOGRAPHY BONE [pascal-francis.inist.fr]

Osteoglophonic Dwarfism

An Atlas of Genetic Disorders of Skeletal Development Since the publication of the second edition on Bone Dysplasias ten years ago, there has been an explosion of knowledge [acco.be]

dysplasia. [iofbonehealth.org]

AD Craniosynostosis, rhizomelia Most have normal life span FGFR2 Bent bone dysplasia; Saethre-Chotzen syndrome Majority – AD (some are sporadic) Bent bone dysplasia –craniosynostosis [arupconsult.com]

Mesomelic Dysplasia Type Langer

Abstract Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type is a distinct heritable bone dysplasia. [doi.org]

Mesomelic dysplasia is a hereditary bone dysplasia with shortening of the intermediate segments of bone (radius and ulna or tibia and fibula). [fetalultrasound.com]

bone dysplasias Ultimately this integrated and multidisciplinary approach will promote the correct diagnosis of many skeletal dysplasias. [esdn.org]

Trevor Disease

DEH) is a rare developmental bone dysplasia characterized by an osteocartilaginous tumor arising from an epiphysis. [mirc.luriechildrens.org]

Dysplasia epiphysealis hemimelica of the carpal bones. Report of a case and review of the literature. J Bone Joint Surg Am 1983 ;65: 398 – 400. [doi.org]

MeSH Term "Fibrous Dysplasia of Bone"[mesh] ICD-10 Code M85 Other disorders of bone density and structure SNOMED-CT Term Fibrous dysplasia of bone (disorder) Concept ID: 10623005 [orthopaedicweblinks.com]

Kenny-Caffey Syndrome Type 1

Homepage Rare diseases Search Search for a rare disease Disease definition A rare primary bone dysplasia syndrome characterized by growth retardation with proportionate short [orpha.net]

Heterozygous mutations in the same gene are responsible for the autosomal dominant allelic disorder known as Gracile Bone Dysplasia (602361). [disorders.eyes.arizona.edu]

Orpha Number: 93324 Definition A rare, primary bone dysplasia characterized by prenatal and postnatal growth retardation, short stature, cortical thickening and medullary [rareguru.com]

Leontiasis due to Leprosy

This monograph is a felicitous combination of a working atlas and a scholarly exposition of the various sclerosing bone dysplasias, considering in detail eighteen major entities [books.google.de]

In the skull base and facial bones, fibrous dysplasia manifests as marked sclerosis and bone thickening. [skullbaseinstitute.com]

"Leontiasis ossea" is the specific name for fibrous dysplasia involving the facial and cranial bones. [skullbaseinstitute.com]

Cole-Carpenter Syndrome

Osteocraniosteosis Section XV Dense Bone Dysplasias with Normal Bone Shape 94. Blomstrand Dysplasia 95. [oupcanada.com]

Orpha Number: 2050 Definition An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple [rareguru.com]

Last updated April 24, 2018 Approved by: Krish Tangella MD, MBA, FCAP Cole-Carpenter syndrome is an extremely rare form of bone dysplasia, characterized by bone fragility [dovemed.com]

Chondrodystrophy

[…] increasing deformity; it may affect a single bone (monostotic fibrous dysplasia) or several or many bones (polyostotic fibrous dysplasia). [web.archive.org]

Spranger JW, Langer LO, Wiedemann HR (1974) Bone dysplasias. Gustav Fischer Verlag, Stuttgart, pp 24–27 Google Scholar 2. [link.springer.com]

A new symptom-complex consisting of deafness, dwarfism, cleft palate, characteristic facies, and a generalized bone dysplasia. Am. J. Dis. Child., 113:214, 1967. ‎ [books.google.ro]

Polyostotic Fibrous Dysplasia

It is characterized by deformities and fractures of the bones, endocrine abnormalities including early puberty, and skin hyperpigmentation Fibrous dysplasia of bone affecting [icd9data.com]

CONCLUSIONS: Bone-grafting, including both allograft and autograft, is of limited value in ablating the lesions of fibrous dysplasia. [ncbi.nlm.nih.gov]

Polyostotic fibrous dysplasia is a form of fibrous dysplasia affecting more than one bone. [en.wikipedia.org]