Craniometaphyseal dysplasia
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Craniometaphyseal dysplasia is a rare condition characterised by thickening (overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long bones known as the metaphysis. The abnormal bone growth continues throughout life. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.
Beskrivning
Craniometaphyseal dysplasia is a rare condition characterised by thickening (overgrowth) of bones in the skull (cranium) and abnormalities in a region at the end of long bones known as the metaphysis. The abnormal bone growth continues throughout life. Except in the most severe cases, the lifespan of people with craniometaphyseal dysplasia is normal.
Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excess bone formation in the jaw can delay teething (dentition) or result in absent (non-erupting) teeth. Infants with craniometaphyseal dysplasia may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can pinch (compress) the nerves that extend from the brain to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness.
The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly long bones in the legs. The ends of these bones are wider and appear less dense than usual in people with this condition.
There are two types of craniometaphyseal dysplasia, which are distinguished by their pattern of inheritance and genetic cause. They are known as the autosomal dominant and autosomal recessive types.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Autosomal dominant craniometaphyseal dysplasia
Autosomal recessive craniometaphyseal dysplasia
CMD
CMDD
CMDJ
CMDR
Craniometaphyseal dysplasia, Jackson type
Related patient information and medicines
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 higher than 4 ft 10 ins (147 cm). ... It tends to be associated with other problems such as a cleft palate, club feet, chest abnormalities and abnormally shaped ears..
Patient information leaflet
Höftproblem
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of 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.
Patient information leaflet
Förskjutning
A dislocation is an injury in which the bones in a led- are forced apart and out of their usual positions. To dislocate the bones of a large joint usually needs considerable force (although there are exceptions to this). Dislocation of artifici... Developmental dysplasia of the hip. This is seen in babies when the hip joint doesn't develop.
Patient information leaflet
Nyföddas fysiska undersökningar
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. Examination of your baby's scrotum (in boys). All boys have their scrotum examined to determine if the.
Patient information leaflet
Barretts esofagus
The changed cells of Barrett's oesophagus are not cancerous (malignant). However, these cells have an increased risk, compared with normal gullet (oesophageal) cells, of turning cancerous in time. The changed cells in Barrett's oesophagus can develop something called dysplasia. A cell with dysplasia is an abnormal cell. It is not cancerous but is.
Patient information leaflet
För tidigt födda barn
The weight of your baby at birth. Your baby is considered to have: A low birth weight if they weigh less than 2500 g (5 lb) A very low birth weight if they weigh less than 1500 g (3 lb) An extremely low birth weight if they weigh less than 1000 g (2 lb) Recent research by the pregnancy charity Tommy's found that in the UK: About 8% of births in.
Vidare läsning och referenser
- Craniometaphyseal dysplasia; MedlinePlus, National Library of Medicine.
- Addison WN, Azari F, Sorensen ES, Kaartinen MT, McKee MD. Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and inhibiting alkaline phosphatase activity. J Biol Chem. 2007 May 25;282(21):15872-83. doi: 10.1074/jbc.M701116200. Epub 2007 Mar 23.
- Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.
- Iughetti P, Alonso LG, Wilcox W, Alonso N, Passos-Bueno MR. Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. Am J Med Genet. 2000 Dec 18;95(5):482-91. doi: 10.1002/1096-8628(20001218)95:53.0.co;2-x.
- Nurnberg P, Thiele H, Chandler D, Hohne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nat Genet. 2001 May;28(1):37-41. doi: 10.1038/ng0501-37.
- Reichenberger E, Chen IP. Autosomal Dominant Craniometaphyseal Dysplasia. 2007 Aug 27 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1461/
- Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16.
- Talbot J, Brion R, Lamora A, Mullard M, Morice S, Heymann D, Verrecchia F. Connexin43 intercellular communication drives the early differentiation of human bone marrow stromal cells into osteoblasts. J Cell Physiol. 2018 Feb;233(2):946-957. doi: 10.1002/jcp.25938. Epub 2017 May 23.
- Zaka R, Williams CJ. Role of the progressive ankylosis gene in cartilage mineralization. Curr Opin Rheumatol. 2006 Mar;18(2):181-6. doi: 10.1097/01.bor.0000209432.36355.6e.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Jun 2018 | Ursprungligen publicerad
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