MORM syndrome

MORM Syndrome

MORM Syndrome (pronunciation: /mɔːrm/ syndrome), also known as Mental retardation, autosomal recessive 21 or MRT21, is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and skeletal abnormalities.

Etymology

The term "MORM" is an acronym derived from the primary characteristics of the syndrome: Mental retardation, Odd facial features, Refractive errors, and Microcephaly. The syndrome was first described in 2009 by researchers Miriam Schmidts and Heiko Reutter.

Symptoms and Signs

Individuals with MORM Syndrome typically present with intellectual disability, distinctive facial features such as a prominent forehead, wide-set eyes (hypertelorism), a broad nasal bridge, and a thin upper lip. Skeletal abnormalities may include short stature and abnormalities of the fingers and/or toes (brachydactyly or syndactyly). Refractive errors such as myopia or hypermetropia are also common.

Genetics

MORM Syndrome is caused by mutations in the CRADD gene, which is located on chromosome 12. This gene provides instructions for making a protein that is involved in the process of programmed cell death (apoptosis). The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of MORM Syndrome is based on clinical examination, detailed patient history, and confirmed by genetic testing. The genetic testing can identify mutations in the CRADD gene.

Treatment

There is currently no cure for MORM Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and corrective lenses for refractive errors.

See Also

• Genetic disorder
• Intellectual disability
• Autosomal recessive inheritance
• CRADD

External links

• Medical encyclopedia article on MORM syndrome
• Wikipedia's article - MORM syndrome

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