Craniometaphyseal dysplasia (CMD), autosomal dominant form.
Beighton
P
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Department of Human Genetics, Medical School, University of Cape Town, Observatory, South Africa.
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003391:Cranial Nerves; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics*; D007427:Intracranial Pressure; D008297:Male; D008875:Middle Aged; D009408:Nerve Compression Syndromes / Q000175:diagnosis / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014178:Translocation, Genetic / Q000235:genetics