Cleidocranial dysostosis

**Cleidocranial dysostosis**
*Classification & external resources*
ICD-10	Q74.0
ICD-9	755.59
OMIM	119600
DiseasesDB	30594
MedlinePlus	001589
MeSH	D002973

Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans due to haploinsufficiency caused by mutations in the CBFA1 gene, on [1] the short arm of chromosome 6.

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Presentation

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.

Notable cases

Although he has not said he has the condition, the comedian Emmett Furrow has no collarbones. [2]

v • d • e Congenital malformations and deformations of musculoskeletal system (Q65-Q79, 754-756)
Limbs	hip: Dislocation of hip/Hip dysplasia feet (Club foot, Flat feet, Pes cavus) head, face, spine and chest: skull, face and jaw (Dolichocephaly, Plagiocephaly) - Scoliosis - chest (Pectus excavatum, Pectus carinatum) Polydactyly/Syndactyly (Webbed toes) reduction deficits (Ectrodactyly, Amelia, Phocomelia) upper limb (Cleidocranial dysostosis, Madelung's deformity, Sprengel's deformity) knee (Genu valgum, Genu varum) Arthrogryposis
Skull and face bones	Craniosynostosis (Scaphocephaly) - Trigonocephaly - Oxycephaly - Crouzon syndrome - Hypertelorism - Macrocephaly - Treacher Collins syndrome - Platybasia
Spine and bony thorax	Klippel-Feil syndrome - Spondylolisthesis - Cervical rib - Bifid rib
Osteochondrodysplasia	growth of tubular bones and spine: Achondrogenesis - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome), Achondroplasia (Hypochondroplasia, Osteosclerosis congenita) - Ellis-van Creveld syndrome - Spondyloepiphyseal dysplasia congenita Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy
Other	abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome
See also non-congenital conditions (M, 710-739)