Kuster–Majewski–Hammerstein syndrome

Kuster–Majewski–Hammerstein Syndrome

Kuster–Majewski–Hammerstein syndrome is a rare genetic disorder characterized by a combination of skeletal abnormalities, growth retardation, and distinctive facial features. This syndrome is named after the researchers who first described it.

Clinical Features

Individuals with Kuster–Majewski–Hammerstein syndrome typically present with a range of clinical features, including:

• Skeletal Abnormalities: These may include dysplasia of the long bones, scoliosis, and kyphosis.
• Growth Retardation: Affected individuals often exhibit significantly reduced growth rates, leading to short stature.
• Facial Dysmorphism: Characteristic facial features may include a prominent forehead, hypertelorism (wide-set eyes), and a flat nasal bridge.
• Developmental Delays: Some individuals may experience delays in reaching developmental milestones.

Genetics

Kuster–Majewski–Hammerstein syndrome is believed to be inherited in an autosomal recessive pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene or genes involved in this syndrome have not been definitively identified, and research is ongoing to better understand the genetic basis of the condition.

Diagnosis

Diagnosis of Kuster–Majewski–Hammerstein syndrome is primarily based on clinical evaluation and the identification of characteristic features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other similar syndromes.

Management

There is currently no cure for Kuster–Majewski–Hammerstein syndrome. Management focuses on addressing the symptoms and may include:

• Orthopedic Interventions: To manage skeletal abnormalities and improve mobility.
• Growth Hormone Therapy: In some cases, to address growth retardation.
• Supportive Therapies: Such as physical therapy, occupational therapy, and speech therapy to support developmental progress.

Prognosis

The prognosis for individuals with Kuster–Majewski–Hammerstein syndrome varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and supportive care can improve quality of life and functional outcomes.

Also see

• Genetic disorders
• Skeletal dysplasia
• Growth hormone therapy
• Developmental delay

NIH genetic and rare disease info

• NIH info on Kuster–Majewski–Hammerstein syndrome

Kuster–Majewski–Hammerstein syndrome is a rare disease.

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