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Craniometaphyseal dysplasia, autosomal dominant

Synonyms
Craniometaphyseal dysplasia Jackson type

Summary

Excerpted from the GeneReview: Craniometaphyseal Dysplasia, Autosomal Dominant
Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones evident clinically as wide nasal bridge, paranasal bossing, widely spaced eyes with an increase in bizygomatic width, and prominent mandible. Development of dentition may be delayed and teeth may fail to erupt as a result of hyperostosis and sclerosis of alveolar bone. Progressive thickening of craniofacial bones continues throughout life, often resulting in narrowing of the cranial foramina, including the foramen magnum. If untreated, compression of cranial nerves can lead to disabling conditions such as facial palsy, blindness, or deafness (conductive and/or sensorineural hearing loss). In individuals with typical uncomplicated AD-CMD life expectancy is normal; in those with severe AD-CMD life expectancy can be reduced as a result of compression of the foramen magnum.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Ernst Reichenberger
I-Ping Chen
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Available tests

36 tests are in the database for this condition.

Clinical tests (35 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: ANK, CCAL2, CMDJ, CPPDD, HANK, MANK, SLC62A1, ANKH
    Summary: ANKH inorganic pyrophosphate transport regulator

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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