Cleidocranial dysostosis: Definition from Answers.com

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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	Q 74.0
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

1 Presentation
2 Notable cases
3 References
4 External links

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

Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65–Q76, 754–756.3)

Appendicular
limb / dysmelia

Upper

clavicle / shoulder:	Cleidocranial dysostosis · Sprengel's deformity · Wallis Zieff Goldblatt syndrome

hand deformity:	Madelung's deformity · Clinodactyly · Oligodactyly · Polydactyly

Lower

hip:	Dislocation of hip / Hip dysplasia · Upington disease · Coxa valga · Coxa vara

knee:	Genu valgum · Genu varum · Genu recurvatum · Discoid meniscus · Congenital patellar dislocation · Congenital knee dislocation

foot deformity:	varus (Club foot / Pigeon toe) · valgus (Flat feet) · Pes cavus · Rocker bottom foot · Hammer toe

Either / both

dactyly / digit:	Polydactyly / Syndactyly (webbed toes) · Arachnodactyly · Cenani Lenz syndactylism · Ectrodactyly · Brachydactyly (Clubbed thumb)

reduction deficits / limb:	Acheiropodia · ectromelia (Phocomelia · Amelia · Hemimelia)

multiple joints:	Arthrogryposis · Larsen syndrome · Rapadilino syndrome

Axial

M: JNT

anat(h/c, u, t, l)/phys

noco(arth/defr/back/soft)/cong, sysi/epon, injr

proc, drug(M01C, M4)

v · d · eGenetic 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 domains	2.1 (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 contacts	4.2: 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 syndrome

Ungrouped	TCF4 (Pitt-Hopkins syndrome) · ZFP57 (TNDM1) · TP63 (Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8)

Transcription coregulators	coactivator: CREBBP (Rubinstein–Taybi syndrome) corepressor: HR (Atrichia with papular lesions)

see also transcription factors B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk

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