Question: What is (are) Craniometaphyseal dysplasia, autosomal dominant ?
Answer: Autosomal dominant craniometaphyseal dysplasia is a genetic skeletal condition characterized by progressive thickening of bones in the skull (cranium) and abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia). The overgrowth of bones in the head can lead to distinctive facial features and delayed tooth eruption, as well as compression of the cranial nerves. If untreated, compression of the cranial nerves can be disabling. The condition is caused by mutations in the ANKH gene. As the name suggests, it is inherited in an autosomal dominant manner. Treatment may include surgery to reduce compression of cranial nerves and recontouring of the facial bones.
Source: GARD

Question: What are the symptoms of Craniometaphyseal dysplasia, autosomal dominant ?
Answer: What are the signs and symptoms of Craniometaphyseal dysplasia, autosomal dominant? Bone overgrowth in the head causes many of the signs and symptoms of craniometaphyseal dysplasia. Affected individuals typically have distinctive facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a prominent jaw. Excessive new bone formation (hyperostosis) in the jaw can delay teething (dentition) or result in absent teeth. Infants with this condition may have breathing or feeding problems caused by narrow nasal passages. In severe cases, abnormal bone growth can compress the nerves that emerge from the brain and extend to various areas of the head and neck (cranial nerves). Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped long bones, particularly the large bones in the legs. The ends of these bones (metaphyses) are wider and appear less dense in people with this condition. The symptoms seen in autosomal recessive craniometaphyseal dysplasia are typically more severe than those seen in the autosomal dominant form. The Human Phenotype Ontology provides the following list of signs and symptoms for Craniometaphyseal dysplasia, autosomal dominant. 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 metaphyses 90% Craniofacial hyperostosis 90% Depressed nasal bridge 90% Hypertelorism 90% Increased bone mineral density 90% Wide nasal bridge 90% Skeletal dysplasia 50% Telecanthus 50% Conductive hearing impairment 7.5% Facial palsy 7.5% Sensorineural hearing impairment 7.5% Visual impairment 7.5% Abnormality of pelvic girdle bone morphology - Abnormality of the nasopharynx - Abnormality of the vertebral column - Autosomal dominant inheritance - Bony paranasal bossing - Calvarial osteosclerosis - Club-shaped distal femur - Erlenmeyer flask deformity of the femurs - Macrocephaly - Mandibular prognathia - Metaphyseal widening - Misalignment of teeth - Mixed hearing impairment - Nasal obstruction - Sclerosis of skull base - 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 Craniometaphyseal dysplasia, autosomal dominant ?
Answer: What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions. Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia may decrease the ANKH protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate can increase bone mineralization, contributing to the bone overgrowth seen in craniometaphyseal dysplasia. Why long bones are shaped differently and only the skull bones become thicker in people with this condition remains unclear.
Source: GARD

Question: Is Craniometaphyseal dysplasia, autosomal dominant inherited ?
Answer: How is autosomal dominant craniometaphyseal dysplasia inherited? Autosomal dominant craniometaphyseal dysplasia is inherited in an autosomal dominant pattern, which means one altered copy of the ANKH gene in each cell is sufficient to cause the disorder. Individuals with autosomal dominant craniometaphyseal dysplasia typically have one parent who also has the condition. Less often, cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Source: GARD

Question: What are the treatments for Craniometaphyseal dysplasia, autosomal dominant ?
Answer: How might craniometaphyseal dysplasia be treated? Treatment consists primarily of surgery to reduce compression of cranial nerves and the brain stem/spinal cord at the level of the foramen magnum. Severely overgrown facial bones can be contoured; however, surgical procedures can be technically difficult and bone regrowth is common. Individuals with craniometaphyseal dysplasia should have regular neurologic evaluations, hearing assessments, and ophthalmologic examinations. The frequency of these evaluations and assessments should be determined by the individual's history and severity of skeletal changes.
Source: GARD