Carnevale–Krajewska–Fischetto syndrome

Carnevale–Krajewska–Fischetto Syndrome is a rare genetic disorder characterized by a range of physical and developmental anomalies. First identified through the collaborative work of researchers Carnevale, Krajewska, and Fischetto, this syndrome has garnered medical interest due to its unique combination of symptoms and genetic basis.

Symptoms and Characteristics

Carnevale–Krajewska–Fischetto Syndrome presents with a diverse array of symptoms, which can vary significantly among affected individuals. Common characteristics include:

• Facial dysmorphisms: Distinctive facial features, such as a prominent forehead, hypertelorism (widely spaced eyes), and a high-arched palate.
• Skeletal anomalies: Including scoliosis (curvature of the spine), joint hypermobility, and limb deformities.
• Dental anomalies: Such as delayed tooth eruption and malocclusion.
• Hearing loss: Either conductive or sensorineural hearing loss.
• Intellectual disability: Varying degrees of intellectual disability or developmental delays.

Genetics

The exact genetic cause of Carnevale–Krajewska–Fischetto Syndrome remains unclear, but it is believed to follow an autosomal recessive inheritance pattern. This means a child must inherit one copy of the mutated gene from each parent, who are typically asymptomatic carriers.

Diagnosis

Diagnosis is primarily based on:

• Clinical evaluation of characteristic symptoms.
• Genetic testing to identify potential mutations, though the specific gene associated with this syndrome has not been definitively identified.

Treatment and Management

There is no cure for Carnevale–Krajewska–Fischetto Syndrome. Treatment focuses on managing symptoms and improving quality of life through:

• Orthopedic interventions: For skeletal anomalies such as scoliosis.
• Dental care: Regular dental check-ups and orthodontic treatment as needed.
• Hearing aids: For those with hearing loss.
• Educational support: Tailored programs to address developmental delays or intellectual disabilities.

Prognosis

The prognosis for individuals with this condition varies depending on the severity of symptoms. With appropriate management and support, many affected individuals can lead fulfilling lives.

See Also

• Genetic disorders
• Skeletal dysplasias
• Developmental disorders
• Syndromes

NIH genetic and rare disease info

• NIH info on Carnevale–Krajewska–Fischetto syndrome

Carnevale–Krajewska–Fischetto syndrome is a rare disease.

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