Katz syndrome is a rare

congenital disorder A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...

, presenting as a polymalformative syndrome characterized by enlarged viscera, hepatomegaly,

diabetes Diabetes, also known as diabetes mellitus, is a group of metabolic disorders characterized by a high blood sugar level ( hyperglycemia) over a prolonged period of time. Symptoms often include frequent urination, increased thirst and increased ap ...

, and skeletal anomalies that result in a short stature, cranial hyperostosis, and typical facial features. It is probably a variant of the autosomal

recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

type of Craniometaphyseal Dysplasia.Bruno Bissonnette, Igor Luginbuehl, Bruno Marciniak, Bernard J. Dalens (eds.): ''Syndromes: Rapid Recognition and Perioperative Implications'' (McGraw-Hill Companies, 2006)

Symptoms and signs

Manifestations include enlarged viscera, hepatomegaly, diabetes, short stature and cranial hyperostosis.

Diagnosis

Treatment

References

Congenital disorders Syndromes affecting the hepatobiliary system Syndromes with craniofacial abnormalities Rare genetic syndromes Syndromes with short stature Rare syndromes {{congenital-malformation-stub