Maroteaux–Stanescu–Cousin syndrome

Maroteaux–Stanescu–Cousin Syndrome

Maroteaux–Stanescu–Cousin syndrome is a rare genetic disorder characterized by a combination of skeletal abnormalities, short stature, and distinctive facial features. It is classified as a type of skeletal dysplasia, which affects the development and growth of bones and cartilage.

Clinical Features

Individuals with Maroteaux–Stanescu–Cousin syndrome typically present with:

• Short stature: Affected individuals are significantly shorter than average for their age and sex.
• Skeletal abnormalities: These may include kyphoscoliosis, a combination of kyphosis and scoliosis, and other deformities of the spine and long bones.
• Facial dysmorphism: Distinctive facial features may include a prominent forehead, a flat nasal bridge, and a small chin.
• Joint laxity: Increased flexibility of the joints, which can lead to joint pain and instability.

Genetics

Maroteaux–Stanescu–Cousin syndrome is inherited in an autosomal recessive manner. 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 Maroteaux–Stanescu–Cousin syndrome is based on clinical evaluation, family history, and radiographic findings. Genetic testing may be used to confirm the diagnosis and to differentiate it from other similar skeletal dysplasias.

Management

There is no cure for Maroteaux–Stanescu–Cousin syndrome, and treatment is primarily supportive. Management strategies may include:

• Orthopedic interventions: Surgery or bracing may be necessary to manage spinal deformities and other skeletal issues.
• Physical therapy: To improve mobility and strengthen muscles around affected joints.
• Regular monitoring: Ongoing assessment by a multidisciplinary team to address any complications that arise.

Prognosis

The prognosis for individuals with Maroteaux–Stanescu–Cousin syndrome varies depending on the severity of the skeletal abnormalities and associated complications. With appropriate management, many individuals can lead relatively normal lives, although they may face challenges related to their physical limitations.

Also see

• Skeletal dysplasia
• Autosomal recessive disorder
• Kyphoscoliosis
• Genetic testing

NIH genetic and rare disease info

• NIH info on Maroteaux–Stanescu–Cousin syndrome

Maroteaux–Stanescu–Cousin syndrome is a rare disease.

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