Katz syndrome is a rare

congenital disorder A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

, presenting as a polymalformative

syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek language, Greek σύνδρομον, meaning "concurrence". When a sy ...

characterized by enlarged

viscera In a multicellular organism, an organ is a collection of tissues joined in a structural unit to serve a common function. In the hierarchy of life, an organ lies between tissue and an organ system. Tissues are formed from same type cells to a ...

hepatomegaly Hepatomegaly is enlargement of the liver. It is a non-specific sign (medicine), medical sign, having many causes, which can broadly be broken down into infection, hepatic tumours, and metabolic disorder. Often, hepatomegaly presents as an abdomin ...

diabetes Diabetes mellitus, commonly known as diabetes, is a group of common endocrine diseases characterized by sustained high blood sugar levels. Diabetes is due to either the pancreas not producing enough of the hormone insulin, or the cells of th ...

, and skeletal anomalies that result in a short stature, cranial

hyperostosis Hyperostosis is an excessive growth of bone. It may lead to exostosis. It occurs in many musculoskeletal disorders and from use of drugs like Isotretinoin. Disorders featuring hyperostosis include: * Camurati-Engelmann disease, type 2 * Hyper ...

, and typical facial features. It is probably a variant of the

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosome ...

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 ...

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 {{Genetic-disorder-stub}