Gnathodiaphyseal dysplasia
Senast uppdaterad 21 Mar 2023
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Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause.
Beskrivning
Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with this condition have reduced bone mineral density (osteopenia), which causes the bones to be unusually fragile. As a result, affected individuals typically experience multiple bone fractures in childhood, often from mild trauma or with no apparent cause.
While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, the outer layer (cortex) of the shafts of the long bones in the arms and legs is abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also occurs in this disorder.
Jaw problems are common in gnathodiaphyseal dysplasia; the prefix "gnatho-" in the condition name refers to the jaw. Affected individuals may develop bone infections (osteomyelitis) in the jaw, which can lead to pain, swelling, discharge of pus from the gums, loose teeth, and slow healing after teeth are lost or extracted. Areas of the jawbone may lose the protective coverage of the gums, which can result in deterioration of the exposed bone (osteonecrosis of the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous tissue and a hard material called cementum, which normally surrounds the roots of teeth and anchors them in the jaw. These areas of abnormal bone, called cementoosseous lesions, may be present at birth or develop later in life.
When gnathodiaphyseal dysplasia was first described, it was thought to be a variation of another bone disorder called osteogenesis imperfecta, which is also characterised by frequent bone fractures. However, gnathodiaphyseal dysplasia is now generally considered to be a separate condition. Unlike in osteogenesis imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without causing deformity or loss of height.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
GDD
Gnathodiaphyseal sclerosis
Levin syndrome 2
Osteogenesis imperfecta with unusual skeletal lesions
Osteogenesis imperfecta, Levin type
Related patient information and medicines
Patient information leaflet
Höftproblem
Orsaker till höftprotes problems in children Developmental dysplasia of the hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is important to pick this up and treat it, as if it isn't treated the joint won't develop normally..
Patient information leaflet
Begränsad tillväxt
Akondroplasi is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no high... Diastrophic dysplasia (DTD). It tends to be associated with other problems such as a cleft palate, club feet, chest abnormalities and abnormally shaped ears..
Patient information leaflet
Förskjutning
A dislocation is an injury in which the bones in a joint are forced apart and out of their usual positions. Dislocation of artificial hips in the period following hip replacement surgery - this is relatively common as the muscles and ligaments a... Developmental dysplasia of the hip. This is seen in babies when the hip joint doesn't develop.
Patient information leaflet
Nyföddas fysiska undersökningar
This is done to ensure that your baby does not have an enlarged liver or spleen or have any abnormal swell... Checking your baby's skin for birthmarks and rashes, as well as colour and texture. Examination of your baby's hips. This is a test to exclude developmental dysplasia of the hip , which is problem with the way that the höftprotes joint develops..
Patient information leaflet
Utvecklingsdysplasi i höften
Utvecklingsdysplasi i höften is a problem with the way that the hip joint develops. It is usually present from birth although may develop later. What is developmental dysplasia of the hip. Developmental dysplasia of the hip (DDH) is an abnormality in the hip joint, usually present from birth. DDH was previously known as congenital.
Patient information leaflet
För tidigt födda barn
What is a premature baby. A premature baby is one who is born earlier than expected. Babies are normally born at around 40 weeks of pregnancy. Babies born before 37 weeks are considered premature or preterm. Babies born at less than 22 weeks of pregnancy (gestation) cannot survive. Those born at less than 28 completed weeks of pregnancy are.
Vidare läsning och referenser
- Gnathodiaphyseal dysplasia; MedlinePlus, National Library of Medicine.
- Ahluwalia J, Ly JQ, Norman E, Costello RF Jr, Beall DP. Gnathodiaphyseal dysplasia. Clin Imaging. 2007 Jan-Feb;31(1):67-9. doi: 10.1016/j.clinimag.2006.07.003.
- Herman TE, Siegel MJ, Sargar K. Gnathodiaphyseal dysplasia. J Perinatol. 2014 May;34(5):412-4. doi: 10.1038/jp.2013.178. No abstract available.
- Marconi C, Brunamonti Binello P, Badiali G, Caci E, Cusano R, Garibaldi J, Pippucci T, Merlini A, Marchetti C, Rhoden KJ, Galietta LJ, Lalatta F, Balbi P, Seri M. A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. Eur J Hum Genet. 2013 Jun;21(6):613-9. doi: 10.1038/ejhg.2012.224. Epub 2012 Oct 10.
- Riminucci M, Collins MT, Corsi A, Boyde A, Murphey MD, Wientroub S, Kuznetsov SA, Cherman N, Robey PG, Bianco P. Gnathodiaphyseal dysplasia: a syndrome of fibro-osseous lesions of jawbones, bone fragility, and long bone bowing. J Bone Miner Res. 2001 Sep;16(9):1710-8. doi: 10.1359/jbmr.2001.16.9.1710.
- Tsutsumi S, Kamata N, Vokes TJ, Maruoka Y, Nakakuki K, Enomoto S, Omura K, Amagasa T, Nagayama M, Saito-Ohara F, Inazawa J, Moritani M, Yamaoka T, Inoue H, Itakura M. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). Am J Hum Genet. 2004 Jun;74(6):1255-61. doi: 10.1086/421527. Epub 2004 Apr 29.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
21 Mar 2023 | Senaste versionen
1 Dec 2014 | Ursprungligen publicerad
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