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.[1]
The
The symptoms seen in
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
| Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
| Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Osteopetrosis |
Harder, denser, fracture-prone bones
|
0011002 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| 30%-79% of people have these symptoms | ||
| Skeletal dysplasia | 0002652 | |
| Telecanthus |
Corners of eye widely separated
|
0000506 |
| 5%-29% of people have these symptoms | ||
| Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
| Facial palsy |
Bell's palsy
|
0010628 |
| Sensorineural hearing impairment | 0000407 | |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ]
|
0000505 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of the nasopharynx | 0001739 | |
| Abnormality of the thorax |
Abnormality of the chest
|
0000765 |
| Autosomal recessive inheritance | 0000007 | |
| Bony paranasal bossing | 0004407 | |
| Broad alveolar ridges | 0000187 | |
| Club-shaped distal femur |
Club-shaped outermost end of thighbone
|
0006384 |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Delayed eruption of permanent teeth |
Delayed eruption of adult teeth
|
0000696 |
| Facial hyperostosis |
Enlargment of the facial bones
Excessive growth of facial bones
Excessive growth of facial skeleton
Increase in size of the facial bones
Overgrowth of facial bones
Overgrowth of facial skeleton
Overgrowth of the facial bones
[ more ]
|
0005465 |
| Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
| Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
| Metaphyseal dysplasia | 0100255 | |
| Mixed hearing impairment |
Hearing loss, mixed
Mixed hearing loss
[ more ]
|
0000410 |
| Nasal obstruction |
Blockage of nose
Nasal blockage
Obstruction of nose
Stuffy nose
[ more ]
|
0001742 |
| Optic atrophy | 0000648 | |
| Patchy sclerosis of finger phalanx |
Uneven increase in bone density in finger bone
|
0009772 |
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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