Cleidocranial Dysplasia (CLCD) malady

NIH Rare Diseases:³⁹ 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.

MalaCards: Cleidocranial Dysplasia, also known as cleidocranial dysostosis, is related to adenoma and diabetes mellitus, and has symptoms including brachycephaly/flat occiput, frontal bossing/prominent forehead and wormian bones. An important gene associated with Cleidocranial Dysplasia is RUNX2 (runt-related transcription factor 2), and among its related pathways are Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling and Regulation of nuclear SMAD2/3 signaling. The drugs bromocriptine and bromocriptine mesylate and the compounds 1,25 dihydroxy vitamin d3 and fibroin have been mentioned in the context of this disorder. Affiliated tissues include clavicle and skull, and related mouse phenotypes are hematopoietic system and reproductive 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:²⁰ 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:⁵⁹ Cleidocranial dysostosis, also called Cleidocranial dysplasia or Mutational dysostosis, is a hereditary... more...

OMIM:

GeneReviews summary for ccd

External Ids:

Disease Ontology8 DOID:13994 MeSH31 C531655, D002973 OMIM43 119600, 216330 NCIt36 C75020 SNOMED-CT52 65976001, 240193006

MESH via Orphanet32 D002973 ICD10 via Orphanet24 Q74.0 SNOMED-CT via Orphanet53 65976001 UMLS via Orphanet57 C0008928 UMLS56 C0008928

Clinical features from OMIM:

Symptoms:

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brachycephaly/flat occiput frontal bossing/prominent forehead wormian bones hypertelorism micrognathia/retrognathia/micrognathism/retrognathism hypoplastic mandibula/partial absence of the mandibula high vaulted/narrow palate supernumerary teeth/polyodontia enamel anomaly multiple caries delayed dentition/eruption of teeth/lack of eruption of teeth narrow/sloping shoulders pelvis anomaly/narrow/broad iliac wings/pubis abnormality autosomal dominant inheritance short stature/dwarfism/nanism large fontanelle/delayed fontanelle closure poorly ossified skull/calvarium mid-facial hypoplasia/short/small midface prognathism/prognathia grooved/dimple chin

depressed nasal bridge clavicle absent/abnormal narrow rib cage/thorax anomalies of the ribs spina bifida occulta sacro-coccyx/sacrum anomaly metacarpal anomalies/archibald's sign broad forehead glossoptosis cleft palate without cleft lip/submucosal cleft palate/bifid uvula scoliosis scapula structural/position anomaly/congenital elevation/sprengel anomaly short hand/brachydactyly clinodactyly of fifth finger genu valgum dysplastic/thick/grooved fingernails dysplastic/thick/grooved toenails mutiple fractures/bone fragility hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana