- Cleidocranial dysostosis
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Cleidocranial dysostosis Classification and external resources 
Hypoplasia of the clavicles and bell-shaped rib cage in the patient with CDDICD-10 Q74.0 ICD-9 755.59 OMIM 119600 DiseasesDB 30594 MedlinePlus 001589 MeSH D002973 Cleidocranial dysostosis, also called Cleidocranial dysplasia, is a hereditary congenital disorder due to haploinsufficiency caused by mutations in the CBFA1 gene also called Runx2,[1] located on the short arm of chromosome 6.
It is usually autosomal dominant, but in some cases the cause is not known.[1]
Contents
Presentation
Cleidocranial dysostosis is a general skeletal condition[2] so named from the collarbone (cleido-) and cranium deformities which people with it often have. Common features are:
- Partly or completely missing collarbones. If the collarbones are completely missing or reduced to small vestiges, this allows hypermobility of the shoulders including ability to touch the shoulders together in front of the chest.
- A soft spot or larger soft area in the top of the head where the fontanelle failed to close, or the fontanelle closes late.
- Bones and joints are underdeveloped. People are shorter and their frames are smaller than their siblings who do not have the condition.
- The permanent teeth include supernumerary teeth. Unless these supernumeraries are reabsorbed before adolescence, they will crowd the adult teeth in what already may be an underdeveloped jaw. In that case, the supernumeraries will probably need to be removed to provide space for the adult teeth.
- Permanent teeth not erupting
- Bossing (bulging) of the forehead.
- Hypertelorism
Notable cases
The comedian Emmett Furrow has no collarbones and uses the resulting extra shoulder mobility in comedy routines. [2] (2nd message); see also YouTube video
At the rescue of Jessica McClure, Ron Short, a muscular man (a roofing contractor) who was born without collarbones because of cleidocranial dysostosis and so could collapse his shoulders to work in cramped corners, arrived at the site and offered to go down the shaft; they accepted his offer, but did not use it.[3][4]
References
- ^ Tanaka JL, Ono E, Filho EM, Castilho JC, Moraes LC, Moraes ME (September 2006). "Cleidocranial dysplasia: importance of radiographic images in diagnosis of the condition". J Oral Sci 48 (3): 161–6. doi:10.2334/josnusd.48.161. PMID 17023750. http://www.jstage.jst.go.jp/article/josnusd/48/3/48_161/_article.
- ^ Garg RK, Agrawal P (2008). "Clinical spectrum of cleidocranial dysplasia: a case report". Cases J 1 (1): 377. doi:10.1186/1757-1626-1-377. PMC 2614945. PMID 19063717. http://www.casesjournal.com/content/1/1/377.
- ^ Kennedy, J. Michael (1987-10-17). "Jessica Makes It to Safety--After 58 1/2 Hours". Los Angeles Times. http://articles.latimes.com/1987-10-17/news/mn-3702_1_jessica-mcclure.
- ^ Cleidocranial Dysplasia-An Enigma Among Anomalies
External links
- http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cleidocranial+Dysplasia
- http://www.cafamily.org.uk/Direct/c37.html
- The National Craniofacial Association
- http://www.medterms.com/script/main/art.asp?articlekey=6549
- http://www.dental.mu.edu/oralpath/lesions/cleidocraniadys/cleidocraniadys.htm
- http://www.ncbi.nlm.nih.gov/books/bv.fcgi?indexed=google&rid=gene.chapter.ccd
- Medical Imaging on CCD
- GeneReviews/NCBI/NIH/UW entry on Cleidocranial Dysplasia
- Radiology of CCD Images from MedPix
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3) Appendicular
limb / dysmeliahand deformity:Lowerhip:knee:Genu valgum · Genu varum · Genu recurvatum · Discoid meniscus · Congenital patellar dislocation · Congenital knee dislocationfoot deformity:Either / bothdactyly / digit:reduction deficits / limb:multiple joints:Axial Craniofacial dysostosis:other:spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta · SacralizationThoracic skeletonribs:sternum:M: JNT
anat(h/c, u, t, l)/phys
noco(arth/defr/back/soft)/cong, sysi/epon, injr
proc, drug(M01C, M4)
Genetic disorder, protein biosynthesis: Transcription factor/coregulator deficiencies (1) Basic domains 1.2: Feingold syndrome · Saethre-Chotzen syndrome
1.3: Tietz syndrome(2) Zinc finger
DNA-binding domains2.1 (Intracellular receptor): Thyroid hormone resistance · Androgen insensitivity syndrome (PAIS, MAIS, CAIS) · Kennedy's disease · PHA1AD pseudohypoaldosteronism · Estrogen insensitivity syndrome · X-linked adrenal hypoplasia congenita · MODY 1 · Familial partial lipodystrophy 3 · SF1 XY gonadal dysgenesis
2.2: Barakat syndrome · Tricho–rhino–phalangeal syndrome
2.3: Greig cephalopolysyndactyly syndrome/Pallister-Hall syndrome · Denys–Drash syndrome · Duane-radial ray syndrome · MODY 7 · MRX 89 · Townes–Brocks syndrome · Acrocallosal syndrome · Myotonic dystrophy 2
2.5: Autoimmune polyendocrine syndrome type 1(3) Helix-turn-helix domains 3.1: ARX (Ohtahara syndrome, Lissencephaly X2) · HLXB9 (Currarino syndrome) · HOXD13 (SPD1 Synpolydactyly) · IPF1 (MODY 4) · LMX1B (Nail–patella syndrome) · MSX1 (Tooth and nail syndrome, OFC5) · PITX2 (Axenfeld syndrome 1) · POU4F3 (DFNA15) · POU3F4 (DFNX2) · ZEB1 (Posterior polymorphous corneal dystrophy 3, Fuchs' dystrophy 3) · ZEB2 (Mowat-Wilson syndrome)
3.2: PAX2 (Papillorenal syndrome) · PAX3 (Waardenburg syndrome 1&3) · PAX4 (MODY 9) · PAX6 (Gillespie syndrome, Coloboma of optic nerve) · PAX8 (Congenital hypothyroidism 2) · PAX9 (STHAG3)
3.3: FOXC1 (Axenfeld syndrome 3, Iridogoniodysgenesis, dominant type) · FOXC2 (Lymphedema–distichiasis syndrome) · FOXE1 (Bamforth–Lazarus syndrome) · FOXE3 (Anterior segment mesenchymal dysgenesis) · FOXF1 (ACD/MPV) · FOXI1 (Enlarged vestibular aqueduct) · FOXL2 (Premature ovarian failure 3) · FOXP3 (IPEX)
3.5: IRF6 (Van der Woude syndrome, Popliteal pterygium syndrome)(4) β-Scaffold factors
with minor groove contacts4.2: Hyperimmunoglobulin E syndrome
4.3: Holt-Oram syndrome · Li-Fraumeni syndrome · Ulnar–mammary syndrome
4.7: Campomelic dysplasia · MODY 3 · MODY 5 · SF1 (SRY XY gonadal dysgenesis, Premature ovarian failure 7) · SOX10 (Waardenburg syndrome 4c, Yemenite deaf-blind hypopigmentation syndrome)
4.11: Cleidocranial dysostosis(0) Other transcription factors 0.6: Kabuki syndromeUngrouped Transcription coregulators Categories:- Congenital disorders of musculoskeletal system
- Transcription factor deficiencies
- Disease stubs
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