Nevo syndrome

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Nevo syndrome
Autosomal recessive - en.svg
Synonyms
Pronounce
Specialty Medical genetics
Symptoms Overgrowth, joint laxity, hypotonia, developmental delay
Complications N/A
Onset Infancy
Duration
Types
Causes Mutations in the FBN1 gene
Risks
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Marfan syndrome, Ehlers-Danlos syndrome
Prevention
Treatment Supportive care, physical therapy
Medication
Prognosis
Frequency Rare
Deaths


A rare genetic disorder


Introduction[edit | edit source]

Nevo syndrome is a rare genetic disorder characterized by overgrowth, developmental delay, and distinctive facial features. It is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected by the disorder.

Genetics[edit | edit source]

Nevo syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The disorder follows an autosomal recessive inheritance pattern, which is depicted in the diagram to the right. In this pattern, both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder themselves.

Clinical Features[edit | edit source]

Individuals with Nevo syndrome often present with a range of clinical features, including:

  • Overgrowth: Excessive growth in height and weight during infancy and early childhood.
  • Developmental delay: Delays in reaching developmental milestones such as sitting, walking, and talking.
  • Distinctive facial features: These may include a prominent forehead, wide-set eyes, and a broad nasal bridge.
  • Hypotonia: Reduced muscle tone, which can affect movement and posture.

Diagnosis[edit | edit source]

The diagnosis of Nevo syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may be used to confirm the diagnosis by identifying mutations in the gene associated with the disorder.

Management[edit | edit source]

There is currently no cure for Nevo syndrome, and treatment is focused on managing symptoms and supporting development. This may include:

Prognosis[edit | edit source]

The prognosis for individuals with Nevo syndrome varies depending on the severity of symptoms and the presence of any associated complications. Early intervention and supportive therapies can improve quality of life and developmental outcomes.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD