Smith-Fineman-Myers syndrome

Smith-Fineman-Myers Syndrome

Smith-Fineman-Myers syndrome (SFMS) is a rare genetic disorder characterized by a combination of physical, developmental, and intellectual disabilities. It is a condition that primarily affects males and is associated with mutations in the PHF6 gene.

History

Smith-Fineman-Myers syndrome was first described in 1980 by Dr. David W. Smith, Dr. Robert M. Fineman, and Dr. Alan Myers. The syndrome was identified based on a distinct set of clinical features observed in affected individuals.

Genetics

SFMS is caused by mutations in the PHF6 gene, which is located on the X chromosome. The PHF6 gene is responsible for encoding a protein that plays a role in chromatin remodeling and gene expression. Mutations in this gene lead to the various symptoms associated with the syndrome.

Clinical Features

Individuals with Smith-Fineman-Myers syndrome typically present with a range of symptoms, including:

• Developmental Delay: Affected individuals often experience delays in reaching developmental milestones such as walking and talking.
• Intellectual Disability: Most individuals with SFMS have some degree of intellectual disability, which can range from mild to severe.
• Distinctive Facial Features: These may include a broad forehead, widely spaced eyes, a flat nasal bridge, and a small jaw.
• Behavioral Issues: Some individuals may exhibit behavioral problems, including hyperactivity and attention deficits.
• Other Physical Anomalies: These can include short stature, skeletal abnormalities, and dental issues.

Diagnosis

Diagnosis of Smith-Fineman-Myers syndrome is based on clinical evaluation and genetic testing. A genetic test can confirm the presence of mutations in the PHF6 gene, which is definitive for diagnosis.

Management

There is no cure for SFMS, and treatment is focused on managing symptoms and improving quality of life. This may involve:

• Educational Support: Special education programs tailored to the individual's needs.
• Therapies: Speech, occupational, and physical therapy to address developmental delays and improve functional abilities.
• Medical Management: Regular monitoring and treatment of any associated medical conditions.

Prognosis

The prognosis for individuals with Smith-Fineman-Myers syndrome varies depending on the severity of symptoms. With appropriate support and interventions, many individuals can lead fulfilling lives.

Research

Ongoing research is focused on understanding the molecular mechanisms underlying SFMS and developing potential therapies. Advances in genetic research may offer new insights into the management of this condition.

See Also

• PHF6
• X-linked genetic disorders
• Developmental delay

External Links

• Genetic and Rare Diseases Information Center
• National Organization for Rare Disorders

NIH genetic and rare disease info

• NIH info on Smith-Fineman-Myers syndrome

Smith-Fineman-Myers syndrome is a rare disease.