SOFT syndrome

Rare genetic disorder

SOFT syndrome is a rare genetic disorder characterized by a combination of skeletal abnormalities, ocular anomalies, facial dysmorphism, and telecanthus. The name "SOFT" is an acronym derived from these primary features: Skeletal abnormalities, Ocular anomalies, Facial dysmorphism, and Telecanthus.

Genetics

SOFT syndrome is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific gene associated with SOFT syndrome has not been definitively identified, but it is believed to involve mutations that affect skeletal development and ocular development.

Autosomal recessive inheritance pattern

Clinical Features

The clinical presentation of SOFT syndrome includes a variety of symptoms that can vary in severity among affected individuals. The primary features include:

Skeletal Abnormalities

Individuals with SOFT syndrome often exhibit short stature and limb abnormalities. These may include brachydactyly (short fingers and toes) and other skeletal deformities that can affect mobility and growth.

Ocular Anomalies

Ocular anomalies are a hallmark of SOFT syndrome. Affected individuals may have microphthalmia (abnormally small eyes), cataracts, and other vision impairments. These ocular issues can lead to significant visual impairment or even blindness in severe cases.

Facial Dysmorphism

Facial dysmorphism in SOFT syndrome is characterized by distinct facial features, which may include a broad nasal bridge, epicanthic folds, and a flat midface. These features contribute to the recognizable appearance of individuals with the syndrome.

Telecanthus

Telecanthus, an increased distance between the inner corners of the eyes, is a common feature in SOFT syndrome. This can contribute to the overall facial appearance and may be associated with other ocular anomalies.

Diagnosis

The diagnosis of SOFT syndrome is primarily clinical, based on the presence of the characteristic features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other syndromes with overlapping features. A thorough clinical evaluation by a geneticist or a specialist in pediatric genetics is often necessary.

Management

Management of SOFT syndrome is symptomatic and supportive. This may include:

• Orthopedic interventions for skeletal abnormalities
• Ophthalmologic care for ocular anomalies
• Genetic counseling for affected families

Prognosis

The prognosis for individuals with SOFT syndrome varies depending on the severity of the symptoms and the presence of any associated complications. Early intervention and supportive care can improve the quality of life for affected individuals.

Related pages

• Genetic disorder
• Autosomal recessive disorder
• Skeletal dysplasia
• Ocular disease