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craniometaphyseal dysplasia Jackson type
Epidemiology: rare
Pathology:
- skeletal disorder
- abnormal bone formation & bone mineralization in membranous & endochondral bones
- progressive thickening of the bones can cause narrowing of cranial foramina & can lead to severe visual & neurological impairment
Genetics:
- autosomal dominant
- associated with defects in ANKH gene
Clinical manifestations:
- visual impairment
- neurological impairment
- facial palsy, deafness
General
craniometaphyseal dysplasia
Database Correlations
OMIM 123000
References
OMIM :accession 123000