Maroteaux–Verloes–Stanescu syndrome

Maroteaux–Verloes–Stanescu Syndrome

Maroteaux–Verloes–Stanescu syndrome is a rare genetic disorder characterized by a combination of skeletal, craniofacial, and other systemic abnormalities. It is named after the researchers Pierre Maroteaux, Pierre Verloes, and Radu Stanescu, who first described the condition.

Clinical Features

Individuals with Maroteaux–Verloes–Stanescu syndrome typically present with a variety of clinical features, which may include:

• Skeletal abnormalities: These may include short stature, scoliosis, and other bone deformities.
• Craniofacial dysmorphism: Characteristic facial features may include a prominent forehead, hypertelorism (wide-set eyes), and a flat nasal bridge.
• Neurological involvement: Some patients may exhibit developmental delays or intellectual disabilities.
• Other systemic features: These can include cardiac anomalies, renal abnormalities, and hearing loss.

Genetics

Maroteaux–Verloes–Stanescu syndrome is believed to be inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. 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 disorder.

Diagnosis

Diagnosis of Maroteaux–Verloes–Stanescu syndrome is primarily based on clinical evaluation and the identification of characteristic features. Genetic testing may be used to confirm the diagnosis if the responsible gene mutations are known. Differential diagnosis should consider other syndromes with overlapping features, such as Noonan syndrome and Turner syndrome.

Management

Management of Maroteaux–Verloes–Stanescu syndrome is symptomatic and supportive. It may involve a multidisciplinary approach, including:

• Orthopedic care: To address skeletal deformities and improve mobility.
• Developmental support: Early intervention programs and special education services for developmental delays.
• Regular monitoring: For potential complications such as cardiac or renal issues.

Prognosis

The prognosis for individuals with Maroteaux–Verloes–Stanescu syndrome varies depending on the severity of the symptoms and the presence of associated complications. With appropriate management, many individuals can lead fulfilling lives.

Also see

• Skeletal dysplasia
• Craniofacial abnormalities
• Genetic counseling
• Rare diseases

NIH genetic and rare disease info

• NIH info on Maroteaux–Verloes–Stanescu syndrome

Maroteaux–Verloes–Stanescu syndrome is a rare disease.

Maroteaux–Verloes–Stanescu syndrome Resources
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