SOFT syndrome

Autosomal_recessive_-_en

SOFT Syndrome

SOFT syndrome, also known as Short stature, Onychodysplasia, Facial dysmorphism, and Hypotrichosis syndrome, is a rare genetic disorder characterized by a combination of physical and developmental abnormalities.

Symptoms

Individuals with SOFT syndrome typically exhibit short stature, nail abnormalities (onychodysplasia), distinctive facial features, and sparse hair (hypotrichosis). Facial dysmorphism may include a prominent forehead, a flat nasal bridge, and a small mouth.

Genetics

SOFT syndrome is caused by mutations in the POC1A gene, which plays a role in cell division and cilia formation. This gene is inherited in an autosomal recessive manner, meaning that affected individuals have two copies of the mutated gene.

Diagnosis

Diagnosis of SOFT syndrome is based on clinical evaluation, physical examination, and genetic testing to confirm the presence of mutations in the POC1A gene.

Treatment

Treatment for SOFT syndrome is focused on managing the symptoms and complications associated with the disorder. This may include growth hormone therapy for short stature, dermatologic care for skin and hair abnormalities, and supportive therapies to address developmental delays.

Prognosis

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

References

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