Cleidocranial Dysplasia (CCD)

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Disease Ontology 12 DOID:13994 OMIM 56 119600 KEGG 36 H00521 MeSH 43 D002973 NCIt 49 C75020 SNOMED-CT 67 65976001 ICD10 32 Q74.0

MESH via Orphanet 44 D002973 ICD10 via Orphanet 33 Q74.0 UMLS via Orphanet 72 C0008928 Orphanet 58 ORPHA1452 MedGen 41 C0008928 C1838416 C1861516 SNOMED-CT via HPO 68 103276001 105985007 109504005 111266001 111496009 113194005 134291007 13649004 15188001 194021007 21186006 22006008 22810007 230145002 237836003 240190009 240221008 249671009 249696007 249768009 253980008 263681008 26597004 266414008 267036007 271825005 274152003 276709006 299130003 299330008 32958008 343087000 35580009 3639002 367534004 36971009 414564002 43476002 49347007 5468008 5639000 63567004 64217002 64859006 699382004 699421005 72535009 73430006 7393007 74820003 76916001 80967001 8666004 87979003 90145001 93250003 95828007 more UMLS 71 C0008928

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 hypertelorism and frontal bossing

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...

Clinical features from OMIM:

119600

Search NIH Clinical Center for Cleidocranial Dysplasia

Search GEO for disease gene expression data for Cleidocranial Dysplasia.