Cleidocranial Dysplasia (CLCD) malady

NIH Rare Diseases:⁴² Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. mutations in the runx2 gene cause most cases of cleidocranial dysplasia. this condition is inherited in an autosomal dominant pattern. in some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. other cases result from new mutations in the runx2 gene. last updated: 12/26/2012

MalaCards: Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to hypophosphatasia and ischemia, and has symptoms including sloping forehead, large fontanelle/delayed fontanelle closure and supernumerary teeth/polyodontia. An important gene associated with Cleidocranial Dysplasia is RUNX2 (runt-related transcription factor 2), and among its related pathways are TGF Beta Signaling Pathway and Regulation of nuclear SMAD2/3 signaling. The compounds cycloheximide and fibroin have been mentioned in the context of this disorder. Affiliated tissues include skull, clavicle and bone, and related mouse phenotypes are limbs/digits/tail and respiratory system.

Disease Ontology:⁸ An osteochondrodysplasia that has material basis in mutations in the runx2 gene which results in underveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull.

Genetics Home Reference:²¹ Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely in severity, even within the same family.

Wikipedia:⁶³ Cleidocranial dysostosis, also called Cleidocranial dysplasia or Mutational dysostosis, is a hereditary... more...

Description from OMIM:⁴⁶ 119600,216330

GeneReviews summary for ccd

External Ids:

Disease Ontology8 DOID:13994 MeSH34 D002973, C531655 OMIM46 119600, 216330 NCIt39 C75020 SNOMED-CT56 65976001, 240193006

MESH via Orphanet35 D002973 ICD10 via Orphanet26 Q74.0 SNOMED-CT via Orphanet57 65976001 UMLS via Orphanet61 C0008928 UMLS60 C0008928

Clinical features from OMIM:

119600,216330

Clinical synopsis from OMIM:

119600

Symptoms:

⁴⁸ (show all 40)

sloping forehead large fontanelle/delayed fontanelle closure supernumerary teeth/polyodontia anomalies of ear and hearing mutiple fractures/bone fragility wormian bones delayed dentition/eruption of teeth/lack of eruption of teeth short hand/brachydactyly narrow/sloping shoulders clavicle absent/abnormal sacro-coccyx/sacrum anomaly tapered fingers hypoplastic mandibula/partial absence of the mandibula poorly ossified skull/calvarium small face narrow rib cage/thorax anomalies of the ribs nasal congestion/sinusitis/rhinitis/rhinorrhea high vaulted/narrow palate autosomal dominant inheritance

apnea/sleep apnea motor deficit/trouble scoliosis epiphyseal anomaly genu valgum hypertelorism frontal bossing/prominent forehead osteoporosis/osteopenia/demineralisation/osteomalacia/rickets hearing loss/hypoacusia/deafness pelvis anomaly/narrow/broad iliac wings/pubis abnormality thumb anomalies (excluding hypoplasia) cleft palate without cleft lip/submucosal cleft palate/bifid uvula brachycephaly/flat occiput short stature/dwarfism/nanism anomalies of teeth and dentition repeat respiratory infections chronic/relapsing otitis dental malocclusion dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia macrocephaly/macrocrania/megalocephaly/megacephaly

Search GEO for disease gene expression data for Cleidocranial Dysplasia.