Rosselli-Gulienetti syndrome, is an extremely rare genetic disorder characterized by a combination of congenital heart defects, distinctive facial features, and developmental delay. It is also known as Zlotogora–Ogur syndrome and Bowen–Armstrong syndrome, which is a type of congenital ectodermal dysplasia syndrome. The syndrome is rare and has only been described in a few cases. This syndrome was first described in 1999 by Dr. Rosselli and Dr. Gulienetti.

Overview:

Rosselli-Gulienetti syndrome is a complex condition that affects multiple systems in the body, primarily involving the heart, face, and neurodevelopmental aspects.

Symptoms:

• Congenital Heart Defects: These may include abnormalities such as ventricular septal defects (VSDs), atrial septal defects (ASDs), and other structural heart abnormalities.
• Distinctive Facial Features: Individuals with Rosselli-Gulienetti syndrome may have characteristic facial features, which can include a broad forehead, hypertelorism (increased distance between the eyes), low-set ears, a broad nasal bridge, and a thin upper lip.
• Developmental Delay: Children with RoGHS may experience delays in reaching developmental milestones, including motor skills, speech, and cognitive development.
• Other Possible Features: Additional features reported in some individuals with Rosselli-Gulienetti syndrome include intellectual disability, growth delay, and skeletal abnormalities.

Epidemiology:

Rosselli-Gulienetti syndrome is extremely rare, with only a few cases reported in medical literature. Due to its rarity, the exact prevalence and incidence of the syndrome are unknown.

Causes:

Rosselli-Gulienetti syndrome is believed to be caused by genetic mutations, although the specific genetic factors involved have not been fully elucidated. The syndrome is thought to be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

Diagnosis:

Diagnosis of Rosselli-Gulienetti syndrome is based on clinical evaluation, including assessment of congenital heart defects, facial features, and developmental milestones. Genetic testing may be performed to confirm the diagnosis and identify the specific genetic mutations involved.

Treatment:

Treatment of Rosselli-Gulienetti syndrome is primarily supportive and aims to address the individual's specific symptoms and medical needs. This may involve interventions such as surgical repair of congenital heart defects, early intervention services to support developmental progress, and ongoing medical monitoring and management of associated health issues.

Prevention:

As Rosselli-Gulienetti syndrome is believed to be inherited in an autosomal recessive manner, genetic counseling may be recommended for families with a history of the condition. Genetic counseling can help assess the risk of recurrence in future pregnancies and provide information about available testing and reproductive options.

Because Rosselli-Gulienetti syndrome is extremely rare, there are currently no specific preventive measures for the condition beyond genetic counseling and family planning considerations. Early recognition and proper management of the syndrome's symptoms and associated health issues are important for optimizing outcomes and quality of life for affected individuals.