Question: What is (are) Cleidocranial dysplasia ?
Answer: 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 (de novo mutations) in the RUNX2 gene. Dental problems are addressed with several procedures. Ear and sinus infections may be treated with antibiotics and use of ear tubes. In some cases surgery is needed for the cranial defect.
Source: GARD

Question: What are the symptoms of Cleidocranial dysplasia ?
Answer: What are the signs and symptoms of Cleidocranial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleidocranial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the clavicle 90% Abnormality of the shoulder 90% Frontal bossing 90% Hypertelorism 90% Increased number of teeth 90% Recurrent respiratory infections 90% Short stature 90% Skeletal dysplasia 90% Wormian bones 90% Abnormality of the ribs 50% Abnormality of the sacrum 50% Brachydactyly syndrome 50% Decreased skull ossification 50% Delayed eruption of teeth 50% Dental malocclusion 50% Hearing impairment 50% Narrow chest 50% Otitis media 50% Reduced bone mineral density 50% Sinusitis 50% Sloping forehead 50% Small face 50% Abnormality of epiphysis morphology 7.5% Abnormality of pelvic girdle bone morphology 7.5% Abnormality of the thumb 7.5% Apnea 7.5% Cleft palate 7.5% Genu valgum 7.5% Macrocephaly 7.5% Recurrent fractures 7.5% Scoliosis 7.5% Tapered finger 7.5% Abnormal facility in opposing the shoulders - Absent frontal sinuses - Absent paranasal sinuses - Aplastic clavicles - Autosomal dominant inheritance - Cervical ribs - Cone-shaped epiphyses of the phalanges of the hand - Coxa vara - Delayed eruption of permanent teeth - Delayed eruption of primary teeth - Delayed pubic bone ossification - Depressed nasal bridge - High palate - Hypoplasia of dental enamel - Hypoplasia of midface - Hypoplastic frontal sinuses - Hypoplastic iliac wing - Hypoplastic scapulae - Increased bone mineral density - Increased susceptibility to fractures - Kyphosis - Large foramen magnum - Long second metacarpal - Malar flattening - Moderately short stature - Narrow palate - Neonatal respiratory distress - Parietal bossing - Persistent open anterior fontanelle - Short clavicles - Short femoral neck - Short middle phalanx of the 2nd finger - Short middle phalanx of the 5th finger - Short ribs - Spondylolisthesis - Spondylolysis - Syringomyelia - Thickened calvaria - Wide pubic symphysis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Cleidocranial dysplasia ?
Answer: What causes cleidocranial dysplasia? Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the development of cells that build bones (osteoblasts). Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations result in an abnormally short protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes located near RUNX2. In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown. Read more about the RUNX2 gene.
Source: GARD

Question: Is Cleidocranial dysplasia inherited ?
Answer: How is cleidocranial dysplasia inherited? Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from de novo mutations (new mutations) in the gene. These cases occur in people with no history of the disorder in their family.
Source: GARD

Question: What are the treatments for Cleidocranial dysplasia ?
Answer: What treatment is available for cleidocranial dysplasia? Because there is no specific treatment for cleidocranial dysplasia, treatment is based on an individual's symptoms. Affected individuals typically require dental care due to various teeth abnormalities. People with cleidocranial dysplasia may receive supplements of calcium and vitamin D if their bone density is below normal, and preventive treatment for osteoporosis is usually started at a young age. Some affected individuals may need ear tubes if they have frequent ear infections. If the cranial vault defect is serious, it is important to protect the head wearing helmets during high-risk activities. Surgery may be needed to correct a depressed forehead or for the enlargement of small clavicles.
Source: GARD