Information about Cleidocranial Dysostosis


Classification & external resources
ICD-10Q74.0
ICD-9755.59
OMIM119600
DiseasesDB30594
MedlinePlus001589
MeSHD002973
Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans due to haploinsufficiency caused by mutations in the CBFA1 gene.

Presentation

It has one or more of these features:

Notable cases

Although he has not said he has the condition, the comedian Emmett Furrow has no collarbones. [1]

External links



The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
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The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
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The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


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The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.

It directly integrates the Unified Medical Language System.

External links

  • Diseases Database

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MedlinePlus is a website containing health information from the world's largest medical library, the United States National Library of Medicine. The site is intended to be used by health care providers and patients, and designed to provide up-to-date, authoritative information.
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Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
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should be added to this article, to conform with Wikipedia's Manual of Style.
Please discuss this issue on the talk page.

Heredity (the adjective is hereditary
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A congenital disorder is any medical condition that is present at birth. However, a congenital disorder can be recognized before birth (prenatally), at birth, years later, or never. The term congenital does not imply or exclude a genetic cause.
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Abnormality is a subjectively defined characteristic, assigned to those with rare or dysfunctional conditions. Defining who is normal or abnormal is a contentious issue in abnormal psychology.
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Haploinsufficiency occurs when a diploid organism only has a single functional copy of a gene (with the other copy inactivated by mutation) and the single functional copy of the gene does not produce enough of a gene product (typically a protein) to bring about a wild-type
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Cbfa1/Runx2 is key transcription factor associated with osteoblast differentiation.

Pathology

Mutations in Cbfa1/Runx2 are associated with the disease Cleidocranial dysostosis.
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A gene is a locatable region of genomic sequence, corresponding to a unit of inheritance, which is associated with regulatory regions, transcribed regions and/or other functional sequence regions.
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Collarbone and collar bone redirect here. The eye abnormality is correctly spelled coloboma.
This article uses some professional terms to describe relative positions and directions.

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fontanelle (or fontanel) is one of two "soft spots" on a newborn human's skull. There are, however, two more fontanelles of interest, the mastoid fontanelle, and the sphenoidal fontanelle.
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skull is a bony structure found in many animals which serves as the general framework for the head. The skull supports the structures of the face and protects the head against injury.

The skull can be subdivided into two parts: the cranium and the mandible.
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Hyperdontia is the condition of having supernumerary teeth, or teeth which appear in addition to the regular number of teeth. The most common supernumerary tooth is a mesiodens, which is a mal-formed, peg-like tooth that occurs between the maxillary central incisors.
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Permanent teeth are the second set of teeth formed in humans. There are 32 permanent teeth, consisting of 6 maxillary and 6 mandibular molars, 4 maxillary and 4 mandibular premolars, 2 maxillary and 2 mandibular canines, 4 maxillary and 4 mandibular incisors.
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In human anatomy, the forehead or brow is the bony part of the head above the eyes. People who have a large forehead are often said to have a fivehead.

Anatomy

In modern humans it is roughly vertical, ending at the hairline where the head flattens out.
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A comedian, or comic, is a performer who entertains an audience by making them laugh. This might be through jokes or amusing situations, or acting the fool, as in slapstick, or employing prop comedy.
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A congenital disorder is any medical condition that is present at birth. However, a congenital disorder can be recognized before birth (prenatally), at birth, years later, or never. The term congenital does not imply or exclude a genetic cause.
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The musculoskeletal system (also known as the locomotor system) is an organ system that gives animals the ability to physically move using the muscles and skeletal system.
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MeSH D006618 A dislocated hip is a condition that can be congenital or acquired. Congenital hip dislocations are much more common in girls than in boys.

Posterior vs. anterior

Nine out of ten hip dislocations are posterior.
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Hip dysplasia
Classification & external resources

ICD-10 Q 65.2
ICD-9 754.3

OMIM 142700
DiseasesDB 3056

MeSH D006618
For a different condition related to pre-cancerous changes in cellular structures, see Dysplasia.

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This article is about the early 1980s Austin, Texas punk venue Club Foot, which should not be confused with the San Francisco punk venue of the same name and time period.

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MeSH D005413 Flat feet, also called pes planus or fallen arches, is a condition in which the arch of the foot collapses, with the entire sole of the foot coming into complete or near-complete contact with the ground.
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Pes cavus is a medical term for a cavus deformity of the foot due to a fixed plantar flexion of the foot. There is a high arched foot - it is the opposite of flat feet.

It is much less common than flat feet and the cause may be neurological, orthopedic or neuromuscular.
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Plagiocephaly is a type of cephalic disorder. Plagiocephaly is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull. It is a common finding at birth and may be the result of a restrictive intrauterine environment.
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Scoliosis
Classification & external resources

ICD-10 M41.0, Q67.5, Q76.3
ICD-9 737.3

Scoliosis is a condition that involves complex lateral and rotational curvature and deformity of the spine.
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Pectus Excavatum
Classification & external resources

An example of a severe case.
ICD-10 Q 67.6
ICD-9 754.81

DiseasesDB 29401

eMedicine ped/2558   Pectus excavatum
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