CCD
MCID: CLD001
MIFTS: 65
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Cleidocranial Dysplasia (CCD)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Cleidocranial Dysplasia:
Characteristics:Orphanet epidemiological data:58
cleidocranial dysplasia
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (Europe),1-9/100000 (United States); Age of onset: Neonatal; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
one third of patients represent new mutations HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Oral diseases
ICD10:
32
33
Orphanet: 58
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Genetics Home Reference :
25
Cleidocranial dysplasia is a condition that primarily affects development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.
Individuals with cleidocranial dysplasia usually have underdeveloped or absent collarbones, also called clavicles ("cleido-" in the condition name refers to these bones). As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the body. Delayed maturation of the skull (cranium) is also characteristic of this condition, including delayed closing of the growth lines where the bones of the skull meet (sutures) and larger than normal spaces (fontanelles) between the skull bones that are noticeable as "soft spots" on the heads of infants. The fontanelles normally close in early childhood, but they may remain open throughout life in people with this disorder. Some individuals with cleidocranial dysplasia have extra pieces of bone called Wormian bones within the sutures.
Affected individuals are often shorter than other members of their family at the same age. Many also have short, tapered fingers and broad thumbs; flat feet; knock knees; short shoulder blades (scapulae); and an abnormal curvature of the spine (scoliosis). Typical facial features include a wide, short skull (brachycephaly); a prominent forehead; wide-set eyes (hypertelorism); a flat nose; and a small upper jaw.
Individuals with cleidocranial dysplasia often have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture, at a relatively early age. Women with cleidocranial dysplasia have an increased risk of requiring a cesarean section when delivering a baby, due to a narrow pelvis preventing passage of the infant's head.
Dental abnormalities are very common in cleidocranial dysplasia and can include delayed loss of the primary (baby) teeth; delayed appearance of the secondary (adult) teeth; unusually shaped, peg-like teeth; misalignment of the teeth and jaws (malocclusion); and extra teeth, sometimes accompanied by cysts in the gums.
In addition to skeletal and dental abnormalities, people with cleidocranial dysplasia may have hearing loss and are prone to sinus and ear infections. Some young children with this condition are mildly delayed in the development of motor skills such as crawling and walking, but intelligence is unaffected.
MalaCards based summary : Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to parietal foramina with cleidocranial dysplasia and coxa vara. An important gene associated with Cleidocranial Dysplasia is RUNX2 (RUNX Family Transcription Factor 2), and among its related pathways/superpathways are Pathways in cancer and Gastric cancer. The drug Liver Extracts has been mentioned in the context of this disorder. Affiliated tissues include clavicle, skull and bone, and related phenotypes are skeletal dysplasia and hypoplastic inferior ilia Disease Ontology : 12 An osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull. NIH Rare Diseases : 52 Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis , hearing loss , bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations ) in the RUNX2 gene and inheritance is autosomal dominant . It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems. OMIM : 56 The main clinical features of CCD include persistently open skull sutures with bulging calvaria, hypoplasia or aplasia of the clavicles permitting abnormal facility in apposing the shoulders, wide pubic symphysis, short middle phalanx of the fifth fingers, dental anomalies, and often vertebral malformation. See 168550 for a discussion of the combination of cleidocranial dysplasia and parietal foramina. Pycnodysostosis (265800) and mandibuloacral dysplasia (248370) are disorders to be considered in the differential diagnosis of cleidocranial dysplasia. Acroosteolysis and bone sclerosis with tendency to fracture are differentiating features of pycnodysostosis. Mundlos (1999) provided a review of the clinical features of cleidocranial dysplasia and the molecular basis of this disorder. (119600) KEGG : 36 Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ossification. Mutations in RUNX2, which is involved in osteoblast differentiation, is the cause of the disease. UniProtKB/Swiss-Prot : 73 Cleidocranial dysplasia: Autosomal dominant skeletal disorder with high penetrance and variable expressivity. It is due to defective endochondral and intramembranous bone formation. Typical features include hypoplasia/aplasia of clavicles, patent fontanelles, wormian bones (additional cranial plates caused by abnormal ossification of the calvaria), supernumerary teeth, short stature, and other skeletal changes. In some cases defects in RUNX2 are exclusively associated with dental anomalies. Wikipedia : 74 Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly... more... |
Human phenotypes related to Cleidocranial Dysplasia:58 31 (show top 50) (show all 88)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:119600MGI Mouse Phenotypes related to Cleidocranial Dysplasia:45 (show all 20)
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Drugs for Cleidocranial Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
Cochrane evidence based reviews: cleidocranial dysplasia |
The Foundational Model of Anatomy Ontology organs/tissues related to Cleidocranial Dysplasia:19
Clavicle,
Skull
MalaCards organs/tissues related to Cleidocranial Dysplasia:40
Bone,
Eye,
Liver,
Bone Marrow,
Myeloid,
Spleen,
Heart
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Articles related to Cleidocranial Dysplasia:(show top 50) (show all 891)
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ClinVar genetic disease variations for Cleidocranial Dysplasia:6 (show top 50) (show all 124)
UniProtKB/Swiss-Prot genetic disease variations for Cleidocranial Dysplasia:73 (show all 47)
Copy number variations for Cleidocranial Dysplasia from CNVD:7
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Search
GEO
for disease gene expression data for Cleidocranial Dysplasia.
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Pathways related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:(show all 20)
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Cellular components related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:
Biological processes related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:(show top 50) (show all 71)
Molecular functions related to Cleidocranial Dysplasia according to GeneCards Suite gene sharing:(show all 13)
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