Lenz-Majewski syndrome

=Lenz-Majewski Syndrome = Lenz-Majewski syndrome (LMS) is a rare genetic disorder characterized by intellectual disability, skeletal abnormalities, and distinctive facial features. It is a congenital condition, meaning it is present from birth, and is caused by mutations in the PTDSS1 gene.

Clinical Features

Individuals with Lenz-Majewski syndrome typically present with a range of clinical features, including:

• Intellectual Disability: Most individuals have moderate to severe intellectual disability.
• Skeletal Abnormalities: These include hyperostosis, which is an abnormal thickening of the bones, particularly in the skull, spine, and long bones.
• Facial Dysmorphism: Distinctive facial features such as a prominent forehead, hypertelorism (wide-set eyes), and a broad nasal bridge.
• Skin Abnormalities: Thickened skin and soft tissue overgrowth are common.
• Dental Anomalies: Delayed eruption of teeth and other dental issues may be present.

Genetics

Lenz-Majewski syndrome is caused by mutations in the PTDSS1 gene, which is located on chromosome 8. This gene is responsible for encoding an enzyme involved in the synthesis of phosphatidylserine, a component of cell membranes. The mutations lead to an overproduction of phosphatidylserine, which is thought to contribute to the symptoms of the syndrome.

Diagnosis

Diagnosis of Lenz-Majewski syndrome is based on clinical evaluation, identification of characteristic features, and genetic testing to confirm mutations in the PTDSS1 gene.

Management

There is no cure for Lenz-Majewski syndrome, and treatment is symptomatic and supportive. Management may involve:

• Educational Support: Special education programs to address intellectual disability.
• Orthopedic Interventions: To manage skeletal abnormalities and improve mobility.
• Regular Monitoring: To assess growth, development, and manage any emerging complications.

Epidemiology

Lenz-Majewski syndrome is extremely rare, with only a few cases reported in the medical literature. The exact prevalence is unknown.

History

The syndrome was first described by Wiedemann in 1966 and later detailed by Lenz and Majewski in 1974, after whom the syndrome is named.

See Also

• Intellectual disability
• Skeletal dysplasia
• Genetic disorders
• Lenz, W., & Majewski, F. (1974). "A generalized bone dysplasia with hyperphosphatasia and multiple congenital anomalies." *Birth Defects Original Article Series*.
• Wiedemann, H. R. (1966). "A new syndrome: Hyperostosis corticalis generalisata with multiple congenital anomalies." *Journal of Pediatrics*.

External Links

• [Genetic and Rare Diseases Information Center](https://rarediseases.info.nih.gov/diseases/)
• [Orphanet](https://www.orpha.net/)

NIH genetic and rare disease info

• NIH info on Lenz-Majewski syndrome

Lenz-Majewski syndrome is a rare disease.