type 2 Kenny-Caffey syndrome
hereditary disorder caused by mutations in the FAM111A gene and characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. OMIM: 127000
Also Known As:
Kenny-Caffey syndrome, type 2; Dwarfism, cortical thickening of tubular bones, and transient hypocalcemia
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