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Cleidocranial dysplasia

Cleidocranial dysplasia: Introduction

Cleidocranial dysplasia: A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption. More detailed information about the symptoms, causes, and treatments of Cleidocranial dysplasia is available below.

Symptoms of Cleidocranial dysplasia

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Cleidocranial dysplasia: Related Patient Stories

Cleidocranial dysplasia: Complications

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Causes of Cleidocranial dysplasia

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Disease Topics Related To Cleidocranial dysplasia

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Less Common Symptoms of Cleidocranial dysplasia

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Definitions of Cleidocranial dysplasia:

A congenital disorder of bone formation with clavicular hypoplasia or agenesis with a narrow thorax, allowing approximation the shoulders in front of the chest occurring with delayed ossification of the skull, excessively large fontanelles, and delayed closing of the sutures. The fontanelles may remain open until adulthood, but the sutures often close with interposition of wormian bones. Bosses of the frontal, parietal, and occipital regions give the skull a large globular shape with small face. The characteristic skull abnormalities are sometimes referred to as the "Arnold head" named after the descendants of a Chinese who settled in South Africa and changed his name to Arnold. More than 100 additional anomalies may be associated, including wide pubic symphysis, dental abnormalities, short middle phalanges of the fifth fingers, delayed skeletal maturation, hearing deficiency, and mild mental retardation in some cases. - (Source - Diseases Database)

Cleidocranial dysplasia is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Cleidocranial dysplasia, or a subtype of Cleidocranial dysplasia, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Cleidocranial dysplasia as a "rare disease".
Source - Orphanet

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More information about Cleidocranial dysplasia

  1. Cleidocranial dysplasia: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Complications
 

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