Craniometaphyseal dysplasia- autosomal dominant
Overview
Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones. Linkage studies mapped the locus for the autosomal dominant form of CMD to an 5-cM interval on chromosome 5p, which is defined by recombinations between loci D5S810 and D5S1954.
Symptoms
* Thick calvarium * Dense cranial vault base * Dense facial bones * Dense mandible * Large head
Causes
* Hydrocephalus * Acromegaly * Proteus syndrome