Cleidocranial Dysplasia (CLCD) malady

NIH Rare Diseases:⁴³ 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 osteogenesis imperfecta, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, frontal bossing/prominent forehead and hypertelorism. 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 kidney, 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:⁶⁴ Cleidocranial dysostosis, also called Cleidocranial dysplasia or Mutational dysostosis, is a hereditary... more...

Description from OMIM:⁴⁷ 119600,216330

GeneReviews summary for ccd

External Ids:

Disease Ontology8 DOID:13994 MeSH35 D002973, C531655 OMIM47 119600, 216330 NCIt40 C75020 SNOMED-CT57 65976001, 240193006

MESH via Orphanet36 D002973 ICD10 via Orphanet26 Q74.0 SNOMED-CT via Orphanet58 65976001 UMLS via Orphanet62 C0008928 UMLS61 C0008928

Clinical features from OMIM:

119600,216330

Clinical synopsis from OMIM:

119600

Symptoms:

⁴⁹ (show all 40)

macrocephaly/macrocrania/megalocephaly/megacephaly frontal bossing/prominent forehead hypertelorism genu valgum epiphyseal anomaly scoliosis motor deficit/trouble apnea/sleep apnea autosomal dominant inheritance high vaulted/narrow palate osteoporosis/osteopenia/demineralisation/osteomalacia/rickets hearing loss/hypoacusia/deafness pelvis anomaly/narrow/broad iliac wings/pubis abnormality dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia dental malocclusion chronic/relapsing otitis repeat respiratory infections anomalies of teeth and dentition short stature/dwarfism/nanism brachycephaly/flat occiput

cleft palate without cleft lip/submucosal cleft palate/bifid uvula thumb anomalies (excluding hypoplasia) nasal congestion/sinusitis/rhinitis/rhinorrhea anomalies of the ribs narrow rib cage/thorax short hand/brachydactyly delayed dentition/eruption of teeth/lack of eruption of teeth wormian bones mutiple fractures/bone fragility anomalies of ear and hearing supernumerary teeth/polyodontia large fontanelle/delayed fontanelle closure narrow/sloping shoulders clavicle absent/abnormal sacro-coccyx/sacrum anomaly tapered fingers sloping forehead hypoplastic mandibula/partial absence of the mandibula poorly ossified skull/calvarium small face

Search GEO for disease gene expression data for Cleidocranial Dysplasia.