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	Cleidocranial dysostosis;
ICD-10	Q74.0
ICD-9	755.59
OMIM	119600
DiseasesDB	30594
MedlinePlus	001589
MeSH	D002973

VisualWikitext

Revision as of 17:54, 3 August 2012

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans due to haploinsufficiency caused by mutations in the CBFA1 gene.

Diagnosis

It has one or more of these features:

The collarbones are partly or completely missing. If they are completely missing, the shoulders can touch each other in front of the chest.
The fontanelles of the skull are late in closing, or never close.
Extra teeth
Permanent teeth not erupting.
Bossing (= bulging) of the forehead.

The following are the imaging findings

Poorly ossified skull, widening of the sutures and multiple wormian bones. In some patients the foramen magnum is deformed, and basilar invagination is often evident.
Absence of the clavicles (either partial or total) may be observed
Other findings include:

- Hypoplastic scapula
- Bell-shaped thorax
- Pelvic changes including delayed ossification of the pubic bones, a wide symphysis pubis and narrow iliac wings.
- Coxa valga or coxa vara deformity may also develop
- Spina bifida occulta is present in some cases

Patient #1

Patient #2

References

Template:WH Template:WS

External links

Template:Disease-stub

@@ Line 1: / Line 1: @@
+__NOTOC__
 {{Infobox_Disease |
    Name           = {{PAGENAME}} |
@@ Line 13: / Line 14: @@
    MeshID         = D002973 |
 }}
+{{SI}}
+{{CMG}}
+==Overview==
 '''Cleidocranial dysostosis''' or '''Cleidocranial dysplasia''' is a [[hereditary]] [[congenital]] [[abnormality]] of humans due to [[haploinsufficiency]] caused by mutations in the [[CBFA1]] [[gene]].
-==Presentation==
+==Diagnosis==
 It has one or more of these features:
 *The [[collarbone]]s are partly or completely missing. If they are completely missing, the shoulders can touch each other in front of the chest.
@@ Line 23: / Line 27: @@
 *Bossing (= bulging) of the [[forehead]].
-==Notable cases==
+The following are the imaging findings
-Although he has not said he has the condition, the [[comedian]] [[Emmett Furrow]] has no collarbones. [http://www.keithcomedy.com/photosView.asp?sImageID=44]
+* Poorly ossified skull, widening of the sutures and multiple wormian bones. In some patients the foramen magnum is deformed, and basilar invagination is often evident.
+* Absence of the clavicles (either partial or total) may be observed
+* Other findings include:
+** Hypoplastic scapula
+** Bell-shaped thorax
+** Pelvic changes including delayed ossification of the pubic bones, a wide symphysis pubis and narrow iliac wings.
+** Coxa valga or coxa vara deformity may also develop
+** Spina bifida occulta is present in some cases
+'''Patient #1'''
+<gallery>
+Image:
+Cleidocranial-dysostosis-001.jpg
+Image:
+Cleidocranial-dysostosis-002.jpg
+</gallery>
+'''Patient #2'''
+<gallery>
+Image:
+Cleidocranial-dysostosis-201.jpg
+Image:
+Cleidocranial-dysostosis-202.jpg
+Image:
+Cleidocranial-dysostosis-203.jpg
+Image:
+Cleidocranial-dysostosis-004.jpg
+</gallery>
+==References==
+{{reflist|2}}
+{{WH}}
+{{WS}}
 ==External links==
@@ Line 39: / Line 89: @@
 [[pl:Dysplazja obojczykowo-czaszkowa]]
 [[fr:Dysplasie cleido cranienne]]
-{{WikiDoc Help Menu}}
 [[Category:Disease]]
 [[Category:Congenital disorders]]

v t e Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756)
Limbs	hip: Dislocation of hip/Hip dysplasia - Upington disease feet (Club foot, Flat feet, Pes cavus) systemic dislocations Larsen syndrome head, face, spine and chest: skull, face and jaw (Dolichocephaly, Greig cephalopolysyndactyly syndrome, Plagiocephaly) - spine Scoliosis - chest (Pectus excavatum, Pectus carinatum) any combination head, face, jaw, upper limb, lower limb, pelvis, dactyly Antley-Bixler syndrome - Schmitt Gillenwater Kelly syndrome dactyly Polydactyly/Syndactyly (Webbed toes) - Cenani Lenz syndactylism reduction deficits (Acheiropodia, Amelia, Ectrodactyly, Phocomelia) upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity, Wallis Zieff Goldblatt syndrome) knee (Genu valgum, Genu varum) other Arthrogryposis
Skull and facial bones	Carpenter syndrome - Craniodiaphyseal dysplasia - Craniosynostosis (Scaphocephaly) - Crouzon syndrome - Hypertelorism - Macrocephaly - Oxycephaly - Platybasia - Saethre-Chotzen syndrome - Treacher Collins syndrome - Trigonocephaly
Spine and bony thorax	Klippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib
Osteochondrodysplasia	developement of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Boomerang dysplasia - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita - Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Recessive multiple epiphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy - Atelosteogenesis, type II - Diastrophic dysplasia
Other	abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome
See also non-congenital conditions (M, 710-739)

Cleidocranial dysostosis
ICD-10	Q74.0
ICD-9	755.59
OMIM	119600
DiseasesDB	30594
MedlinePlus	001589
MeSH	D002973