Mowat-Wilson Syndrome - AbsoluteAstronomy.com

Mowat Wilson syndrome is a rare genetic disorder

Genetic disorder

A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions....

that was clinically delineated by Dr. D. R. Mowat and Dr. M. J. Wilson in 1998.

Presentation

This autosomal dominant disorder is characterized by a number of health defects including Hirschsprung's disease

Hirschsprung's disease

Hirschsprung's disease , or congenital aganglionic megacolon is a serious medical problem where the enteric nervous system is missing from the end of the bowel. The enteric nervous system is a complex network of neurons and glia that controls most aspects of intestinal function...

, mental retardation

Mental retardation

Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...

, seizure disorder, delayed growth and motor development, congenital heart disease, genitourinary anomalies and absence of the corpus callosum

Corpus callosum

The corpus callosum , also known as the colossal commissure, is a wide, flat bundle of neural fibers beneath the cortex in the eutherian brain at the longitudinal fissure. It connects the left and right cerebral hemispheres and facilitates interhemispheric communication...

. However, Hirschsprung's disease is not present in all infants with Mowat-Wilson syndrome and therefore it is not a required diagnostic criterion. Distinctive physical features include microcephaly

Microcephaly

Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...

, narrow chin, cupped ears with uplifted lobes with central depression, deep and widely set eyes, open mouth, wide nasal bridge and a shortened philtrum

Philtrum

The philtrum , is a medial cleft common to many mammals, extending from the nose to the upper lip, and, together with a glandular rhinarium and slit-like nostrils, is believed to constitute the primitive condition for mammals in general...

Causes

The disorder is expressed in an autosomal dominant fashion and may result from a de novo (new) mutation

Mutation

In molecular biology and genetics, mutations are changes in a genomic sequence: the DNA sequence of a cell's genome or the DNA or RNA sequence of a virus. They can be defined as sudden and spontaneous changes in the cell. Mutations are caused by radiation, viruses, transposons and mutagenic...

or deletions of the ZEB2

ZEB2

Zinc finger E-box-binding homeobox 2 is a protein that in humans is encoded by the ZEB2 gene.-Function:The SMADIP1 gene is a member of the delta-EF1 /Zfh1 family of 2-handed zinc finger/homeodomain proteins...

(also known as ZFHX1B or SMADIP1) gene

Gene

A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...

on chromosome

Chromosome

A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...

2q22.

However, some of those affected by the disease do not have abnormalities of this gene that are currently detectable.

Prognosis

There is no cure for this syndrome. Treatment is supportive and symptomatic. All children with Mowat-Wilson syndrome required early intervention with speech therapy and physical therapy.

External links

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