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Cleidocranial dysostosis
Classification and external resources
Hypoplasia of the clavicles and bell-shaped rib cage in the patient with CDD
ICD-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,[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 1 Presentation 2 Notable cases 3 References 4 External links

[edit] 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.
• 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

[edit] Notable cases

The comedian Emmett Furrow has no collarbones and uses the resulting extra shoulder mobility in comedy routines. [2] (2nd message); see also image; YouTube video

At the rescue of Jessica McClure, Ron Short, a muscular man 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]

[edit] References

[edit] 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
• Radiology of CCDImages from MedPix

v • d • e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q76, 754-756.3) Limb/ dysmelia Upper clavicle/shoulder: Cleidocranial dysostosis · Sprengel's deformity · Wallis Zieff Goldblatt syndrome hand deformity: Madelung's deformity · Clinodactyly Lower hip: Dislocation of hip/Hip dysplasia · Upington disease · Coxa valga · Coxa vara knee: Genu valgum · Genu varum foot deformity: Club foot · Flat feet · Pes cavus · Rocker bottom foot Either/both dactyly/digit: Polydactyly/Syndactyly (Webbed toes) · Arachnodactyly · Cenani Lenz syndactylism · Ectrodactyly · Brachydactyly reduction deficits/limb: Acheiropodia · ectromelia (Phocomelia, Amelia, Hemimelia) multiple joints: Arthrogryposis · Larsen syndrome · Rapadilino syndrome Craniofacial Craniosynostosis: Scaphocephaly · Oxycephaly · Trigonocephaly Craniofacial dysostosis: Crouzon syndrome · Hypertelorism · Hallermann-Streiff syndrome · Treacher Collins syndrome other: Macrocephaly · Platybasia · Craniodiaphyseal dysplasia · Dolichocephaly · Greig cephalopolysyndactyly syndrome · Plagiocephaly · Saddle nose Other axial spine: spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta ribs: Cervical rib · Bifid rib sternum: Pectus excavatum · Pectus carinatum joint navs: anat, non-congenital arthropathies/deformities/dorsopathies/soft tissue arthropathy/congenital, eponymous signs, proc

v • d • e Genetic disorder: Transcription factor/coregulator deficiencies (1) Basic domains none (2) Zinc finger DNA-binding domains Greig cephalopolysyndactyly syndrome · Pallister-Hall syndrome · X-linked adrenal hypoplasia congenita · Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains Waardenburg syndrome 1 · Developmental dyspraxia · IPEX · Nail-patella syndrome · SPD1 Synpolydactyly (4) β-Scaffold factors with minor groove contacts Campomelic dysplasia · Holt-Oram syndrome · Cleidocranial dysostosis · Li-Fraumeni syndrome · Hyperimmunoglobulin E syndrome · Ulnar–mammary syndrome (0) Other transcription factors none Transcription coregulators Rubinstein-Taybi syndrome see also transcription factors

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