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         Cleidocranial Dysplasia:     more detail
  1. Cleidocranial dysplasia: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Jennifer, MS, CGC Roggenbuck, 2005

1. Cleidocranial_dysplasia
Information about this rare genetic disorder, studies and a chat room.
http://cleidocranial_dysplasia.homestead.com/page1.html
This page was last updated on: January 5, 2003

2. Cleidocranial Dysplasia (CCD, CLCD)
A list of synonyms, summary and major features.
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome233.html
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
View the Full Record
Syndrome cleidocranial dysplasia (CCD, CLCD) Synonyms Marie-Sainton syndrome Scheuthauer-Marie-Sainton syndrome cleidocranial digital dysostosis cleidocranial dysostosis craniocleidodysostosis dysostosis cleidocranialis dysostosis cleidocraniodigitalis dysostosis cleidocraniopelvina dysostosis generalisata dysplasia cleidocranialis dysplasia cleidofacialis mutational dysostosis osteodental dysplasia (ODD) pelvicocleidocranial dysostosis Summary 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. Major Features Head and neck: Brachycephaly with bossing of the frontal, parietal, and occipital bossing give the head a large globular appearance with a small face because of smallness of the maxillary and zygomatic bones and relative prognathism. Additional abnormalities include open fontanels; open cranial sutures; calvarial thickening in the supraorbital part of the bone, squama of the temporal bones, and the occipital bone; wormian bones filling suture lines, occasional absence of the parietal bones, faulty development of the foramen magnum, and dysplasia of the paranasal sinuses and mastoids.

3. Cleidocranial Dysplais
Welcome To cleidocranial dysplasia. CCD. About Me
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4. 181: A Natural History Of Cleidocranial Dysplasia.
An article from Baylor College of Medicine.
http://www.faseb.org/genetics/ashg99/f181.htm
Program Nr: 181 A Natural History of Cleidocranial Dysplasia. S.C. Cooper , B. Lee , G. Zhou , C. Flaitz , J. Hecht 1) University of Texas, Houston, TX; 2) Baylor College of Medicine, Houston, TX.

5. Virtual Children's Hospital: Paediapaedia: Cleidocranial Dysplasia
Paediapaedia Musculoskeletal Diseases. cleidocranial dysplasia. Michael P. D'Alessandro, M.D or dysplastic pubic bones, femoral neck dysplasia, wide SI joints, iliac hypoplasia
http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/CleidocranDys.html
Paediapaedia: Musculoskeletal Diseases
Cleidocranial Dysplasia
Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed Clinical Presentation:
See delayed closure of sutures and the anterior fontanelle, small face, drooping shoulders, increased joint mobility, abnormal gait, and short digits. Etiology/Pathophysiology:
Heritable connective tissue disorder due to abnormal ossification of membranous and chondral bones. Pathology:
Not applicable Imaging Findings:
Radiographic signs include: Skull has wormian bones and delayed or absent closure of the fontanelles Clavicles - total or partial absence of one or both clavicles Pelvis - absent or dysplastic pubic bones, femoral neck dysplasia, wide SI joints, iliac hypoplasia Hands - long 2nd metacarpal and metatarsal, short distal phalanges DDX:
  • Not applicable
References:
See References Chapter. Title Page See related Provider Textbooks about Radiology See related Provider Topics Diagnostic Imaging Procedures and Therapies or Radiology See related Patient Textbooks about Radiology See related Patient Topics Diagnostic Imaging Procedures and Therapies or Radiology Virtual Children's Hospital Home Virtual Hospital Home Site Map ... UI Health Care Home http://www.vh.org/pediatric/provider/radiology/PAP/MSDiseases/CleidocranDys.html

6. Cleidocranial Dysplasia - Medical Dictionary Definitions Of Popular Medical Term
MedicineNet Home MedTerms medical dictionary AZ List cleidocranial dysplasia. Advanced Search. cleidocranial dysplasia Index.
http://www.medterms.com/script/main/art.asp?articlekey=6549

7. Cleidocranial Dysplasia
The National Craniofacial Association. P. O. Box 11082 * Chattanooga, TN 37401. 800 332-2373. cleidocranial dysplasia. What is cleidocranial dysplasia? What is cleidocranial dysplasia? cleidocranial dysplasia (cleido = collar bone, + cranial = head, + dysplasia = abnormal also known as Cleidocranial Dysostosis and Marie-Sainton
http://www.faces-cranio.org/Disord/CCD.htm
The National Craniofacial Association P. O. Box 11082 * Chattanooga, TN 37401 Cleidocranial Dysplasia What is Cleidocranial Dysplasia?
Cleidocranial Dysplasia ( cleido = collar bone, + cranial = head, + dysplasia = abnormal forming) , also known as Cleidocranial Dysostosis and Marie-Sainton Disease, is a condition characterized by defective development of the cranial bones and by the complete or partial absence of the collar bones (clavicles). Characteristics include:
  • Delayed closure (ossification) of the space between the bones of the skull (fontanels) Premature closing of the coronal suture Protruding jaw (mandible) and protruding brow bone (frontal bossing) Wide nasal bridge due to increased space between the eyes (hypertelorism) High arched palate or possible cleft palate Short stature Scoliosis of the spine
Why did this happen?
There is no link between anything the mother did or did not do while she was pregnant and the occurrence of Cleidocranial Dysplasia. It is transmitted as an autosomal dominant trait. The cause is not yet known, but several chromosome abnormalities have been linked with this syndrome, including chromosome 6p21.
Will this happen to children I have in the future?

8. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cleidocranial+Dysplasia
More results from www.nlm.nih.gov cleidocranial dysplasiacleidocranial dysplasia. What is cleidocranial dysplasia? Of all the cases of cleidocranial dysplasia, onethird are spontaneous and two-thirds are genetic.
http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Cleidocranial Dysplasia

9. Health And Medical Information: Diseases And Conditions, Medical Dictionary, Pro
Basic information.
http://www.medicinenet.com/Script/Main/Art.asp?li=MNI&ArticleKey=6549

10. Cleidocranial Dysplasia Information Diseases Database
cleidocranial dysplasia Dysostosis, cleidocranial ScheuthauerMarie-Sainton syndrome, Disease Database Information
http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=30594

11. Cleidocranial Dysplasia - Health And Medical Information: Diseases And Condition
MedicineNet Home Diseases Conditions AZ List cleidocranial dysplasia. Advanced Search. dysplasia. cleidocranial dysplasia At A Glance.
http://www.medicinenet.com/Cleidocranial_Dysplasia/article.htm
Click Here MedicineNet Home > Cleidocranial Dysplasia Advanced Search
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Add to Favorites Email to a Friend ... Next page Cleidocranial Dysplasia What is cleidocranial dysplasia? Cleidocranial dysplasia (CCD) is a genetic (inherited) disorder of bone development which is characterized by:
  • Absent or incompletely formed collar bones (the "cleido-" part refers to the clavicles, the collar bones). A person with this condition can bring his/her shoulders together or nearly so; and Typical cranial and facial abnormalities with square skull, late closure of the sutures of the skull, late closure of the fontanels (the soft spots), low nasal bridge, delayed eruption of the teeth, abnormal permanent teeth, etc.
  • How does a person acquire CCD? The disorder is transmitted genetically in an autosomal dominant manner. This means that one parent with the condition has a 50:50 chance of passing CCD to each of their children. Boys and girls are equally affected. What is the molecular genetic basis for CCD?

    12. Cleidocranial Dysplasia
    Medical Encyclopdia article about cleidocranial dysplasia cleidocranial dysplasia. A Medical Encyclopedia Article provided by North Arundel Hospital. A resource with information on over 4000 medical topics including cleidocranial dysplasia
    http://www.thoraciconcology.com/medical-terms/04035.htm
    Cleidocranial dysplasia
    A Medical Encyclopedia Article provided by North Arundel Hospital A resource with information on over 4000 medical topics including: Cleidocranial dysplasia
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    13. Cleidocranial Dysplasia - Medical Dictionary Definitions Of Popular Medical Term
    Online Medical Dictionary and glossary with medical definitions MedTerms medical dictionary AZ List cleidocranial dysplasia cleidocranial dysplasia A genetic (inherited) disorder of bone
    http://www.medterms.com/script/main/art.asp?articlekey=6549&rd=1

    14. Cleidocranial Dysplasia Articles, Support Groups, And Resources
    cleidocranial dysplasia articles, support groups, and resources for patients from Med Help International (www.medhelp.org). cleidocranial dysplasia.
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    15. CLEIDOCRANIAL DYSPLASIA
    cleidocranial dysplasia An inherited disorder of bone development transmitted with an autosomal dominant pattern. Characteristics
    http://www.medhelp.org/glossary2/new/GLS_1259.HTM
    CLEIDOCRANIAL DYSPLASIA - An inherited disorder of bone development transmitted with an autosomal dominant pattern. Characteristics include absent or incompletely formed collar bones, dental abnormalities, joint laxity, and a characteristic facial appearance (heavy brow, protruding jaw, wide nasal bridge, and malaligned teeth).
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    16. Cleidocranial Dysplasia - Information / Diagnosis / Treatment / Prevention
    home rare disorders cleidocranial dysplasia cleidocranial dysplasia. MedicineNet.com cleidocranial dysplasia Basic information.
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    Related Topics: Genetic Disorders Musculoskeletal Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "cleidocranial dysplasia" Health News: Search millions of published articles for news on Cleidocranial Dysplasia Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: A Natural History of Cleidocranial Dysplasia An article from Baylor College of Medicine. Cleidocranial Dysplasia Information about this rare genetic disorder, studies and a chat room. MedicineNet.com: Cleidocranial Dysplasia

    17. Cleidocranial Dysplasia
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    Cleidocranial Dysplasia
    cleidocranial dysplasia (CCD, CLCD) ...Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome cleidocranial dysplasia (CCD, CLCD) Synonyms Marie-Sainton syndrome Scheuthauer-Marie-Sainton syndrome...
    cleidocranial dysplais ... Welcome To Cleidocranial Dysplasia. CCD ...
    Cleidocranial Dysplasia Home Welcome. The recent problems we've been experiencing with the forms have been fixed. According to Mosby's Medical, Nursing, and Allied Health Dictionary (Fourth Edition), Cleidocranial Dysplasia...
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    18. Cleidocranial Dysplasia Information Diseases Database
    cleidocranial dysplasia,Dysostosis, cleidocranial,ScheuthauerMarie-Sainton syndrome, Disease Database Information.
    http://www.diseasesdatabase.com/ddb30594.htm
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    3 synonyms or equivalents were found. Cleidocranial dysplasia
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    19. Cleidocranial Dysplasia
    cleidocranial dysplasia,. Print this article, GL. The Encyclopaedia of Medical Imaging Volume VII. cleidocranial dysplasia, Fig. 1. AP chest radiograph.
    http://www.amershamhealth.com/medcyclopaedia/medical/Volume VII/CLEIDOCRANIAL DY
    Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Cleidocranial dysplasia, a rare congenital defect characterized by deficient ossification of bone, particularly mid line bone formed in membrane. The condition is transmitted as an autosomal dominant trait with widely variable phenotypic expression. The classical site of the abnormality is the clavicle which may show a spectrum of radiographic appearances ranging from hypoplasia of the mid third of clavicular shaft to complete absence of the clavicle. This clavicular dysplasia is most prominent in the lateral aspect of the clavicle. Clinically the shoulders droop forward and are excessively mobile. Children with complete bilateral absence of the clavicle can approximate their shoulders anteriorly ( Fig.1 ). Radiographs may show a range of other abnormalities. The head may be large with frontal bossing, delayed or absent closure of fontanelle ( Fig.2 ) and widened sutures with persistent metopic suture and multiple Wormian bones. Permanent teeth may be delayed in eruption and maldeveloped, the palate may be narrow and high arched and the sinuses hypoplastic. The thorax may be narrow and bell-shaped with incomplete ossification of the sternum. There may be absent or dysplastic pubic bones with resultant pubic diastasis ( Fig.3

    20. Cleidocranial Dysplasia
    cleidocranial dysplasia,. Print this article, cleidocranial dysplasia, Fig. 1. a. Frontal radiograph demonstrates partial absence of the clavicles bilaterally.
    http://www.amershamhealth.com/medcyclopaedia/medical/Volume III 1/CLEIDOCRANIAL
    Amershamhealth.com Search for: Type a word or a phrase. All forms of the word are searchable. Browse entry words starting with: A B C D ... Other characters Cleidocranial dysplasia, an autosomal dominant disorder with numerous clinical findings, including mild shortening of stature, large brachycephalic head, small face, and high, arched palate with delayed eruption of supernumerary teeth. In addition, the patient may have genu valgum and short fingers. Radiographic features reveal poorly ossified skull, widening of the sutures and multiple wormian bones. In some patients the foramen magnum is deformed, and basilar impression is often evident. Absence of the clavicle (partial or total) may be observed ( Fig.1 ). Other findings include hypoplastic scapula, bell-shaped thorax and pelvic changes (delayed ossification of the pubic bones, a wide symphysis pubis and narrow iliac wings). Coxa valga or coxa vara deformity may also develop, and in some cases spina bifida occulta is present. The hands and wrists also may be involved.
    DR/RB
    The Encyclopaedia of Medical Imaging Volume III:1 Cleidocranial dysplasia, Fig. 1

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