Kapur–Toriello syndrome

autorecessive

Kapur–Toriello syndrome is a rare genetic disorder characterized by a combination of congenital anomalies. The syndrome was first described by Kapur and Toriello, and it includes a variety of physical and developmental abnormalities.

Presentation

Individuals with Kapur–Toriello syndrome typically present with a range of symptoms that may include craniofacial abnormalities, intellectual disability, and congenital heart defects. Common craniofacial features include microcephaly, cleft palate, and distinctive facial features such as a broad nasal bridge and a small jaw (micrognathia).

Genetics

The exact genetic cause of Kapur–Toriello syndrome is not well understood. It is believed to follow an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

Diagnosis

Diagnosis of Kapur–Toriello syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other syndromes with overlapping symptoms.

Management

There is no cure for Kapur–Toriello syndrome, and treatment is focused on managing the symptoms and improving the quality of life for affected individuals. This may include surgical interventions for craniofacial abnormalities, speech therapy for communication difficulties, and special education services for intellectual disabilities.

Prognosis

The prognosis for individuals with Kapur–Toriello syndrome varies depending on the severity of the symptoms and the presence of associated health issues. Early intervention and supportive care can improve outcomes for many individuals.

Related Pages

• Genetic disorder
• Craniofacial abnormalities
• Intellectual disability
• Congenital heart defect
• Microcephaly
• Cleft palate
• Micrognathia
• Autosomal recessive