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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Craniometaphyseal dysplasia, autosomal recessive type


Other Names for this Disease

  • CMDR
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Symptoms

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What are the signs and symptoms of craniometaphyseal dysplasia?

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 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.[1]

Last updated: 3/9/2011

The Human Phenotype Ontology provides the following list of signs and symptoms for Craniometaphyseal dysplasia, autosomal recessive type. 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%
Visual impairment 7.5%
Abnormality of the nasopharynx -
Abnormality of the thorax -
Autosomal recessive inheritance -
Bony paranasal bossing -
Broad alveolar ridges -
Club-shaped distal femur -
Coarse facial features -
Delayed eruption of permanent teeth -
Facial hyperostosis -
Facial palsy -
Flared metaphyses -
Hypertelorism -
Macrocephaly -
Mandibular prognathia -
Mixed hearing impairment -
Nasal obstruction -
Optic atrophy -
Patchy sclerosis of finger phalanx -
Telecanthus -
Wide nasal bridge -

Last updated: 12/1/2014

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.


References
  1. Craniometaphyseal dysplasia. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia. Accessed 8/24/2010.


Other Names for this Disease
  • CMDR
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.