Synonyms: | Hyperostosis frontalis interna |
Field: | Medical genetics |
Katz syndrome is a rare congenital disorder, presenting as a polymalformative syndrome characterized by enlarged viscera, hepatomegaly, diabetes, and skeletal anomalies that result in a short stature, cranial hyperostosis, and typical facial features. It is probably a variant of the autosomal recessive type of Craniometaphyseal Dysplasia.[1]
Manifestations include enlarged viscera, hepatomegaly, diabetes, short stature and cranial hyperostosis.