Hecht-Scott syndrome

=Hecht-Scott Syndrome = Hecht-Scott Syndrome, also known as Distal Arthrogryposis Type 1, is a rare genetic disorder characterized by congenital joint contractures, primarily affecting the distal parts of the limbs. This condition is part of a group of disorders known as arthrogryposis, which involves multiple joint contractures present at birth.

Clinical Features

Individuals with Hecht-Scott Syndrome typically present with:

• Joint Contractures: Most commonly affecting the hands and feet, leading to limited range of motion.
• Muscle Weakness: Varying degrees of muscle weakness may be present.
• Skeletal Abnormalities: Some individuals may have additional skeletal abnormalities, such as scoliosis or hip dislocation.

Genetics

Hecht-Scott Syndrome is inherited in an autosomal dominant pattern, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. The specific gene mutations associated with this syndrome are not fully understood, but it is believed to involve genes that play a role in muscle and joint development.

Diagnosis

Diagnosis of Hecht-Scott Syndrome is primarily clinical, based on the presence of characteristic joint contractures and family history. Genetic testing may be used to confirm the diagnosis and to differentiate it from other types of distal arthrogryposis.

Management

Management of Hecht-Scott Syndrome focuses on improving joint mobility and function. This may include:

• Physical Therapy: To maintain and improve range of motion.
• Orthopedic Interventions: Such as splinting or surgery to correct severe contractures.
• Occupational Therapy: To assist with daily activities and improve quality of life.

Prognosis

The prognosis for individuals with Hecht-Scott Syndrome varies depending on the severity of the joint contractures and associated symptoms. With appropriate management, many individuals can lead active lives.

See Also

• Arthrogryposis
• Distal Arthrogryposis
• Congenital Joint Contractures
• Hecht, F., & Scott, C. I. (1971). Distal arthrogryposis: A new syndrome of congenital contractures. *Journal of Pediatrics*, 79(1), 107-111.
• Bamshad, M., et al. (1996). Distal arthrogryposis: Clinical and genetic analysis of 110 cases. *American Journal of Medical Genetics*, 65(1), 282-290.

NIH genetic and rare disease info

• NIH info on Hecht-Scott syndrome

Hecht-Scott syndrome is a rare disease.