Lubani Al Saleh Teebi syndrome

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Lubani Al Saleh Teebi syndrome
File:Autorecessive.svg
Synonyms
Pronounce
Specialty	Medical genetics
Symptoms	Congenital heart defects, skeletal abnormalities, growth retardation
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis
Prevention
Treatment	Supportive care, surgical intervention for heart defects
Medication
Prognosis	Variable, depending on severity of symptoms
Frequency	Rare
Deaths

Lubani-Al-Saleh-Teebi syndrome is a rare genetic disorder characterized by a combination of congenital anomalies and developmental delay. It is inherited in an autosomal recessive pattern, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected by the disorder.

Clinical Features

Individuals with Lubani-Al-Saleh-Teebi syndrome typically present with a range of clinical features, which may include:

• Craniofacial dysmorphism: This can include features such as a prominent forehead, hypertelorism (widely spaced eyes), and a broad nasal bridge.
• Developmental delay: Affected individuals often experience delays in reaching developmental milestones, such as walking and talking.
• Intellectual disability: The degree of intellectual disability can vary among individuals with the syndrome.
• Skeletal abnormalities: These may include short stature and other skeletal dysplasias.
• Cardiac anomalies: Some individuals may have congenital heart defects.

Genetics

Lubani-Al-Saleh-Teebi syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The syndrome follows an autosomal recessive inheritance pattern, as depicted in the diagram. This means that both parents of an affected individual are typically carriers of one copy of the mutated gene but do not show symptoms of the disorder themselves.

Diagnosis

Diagnosis of Lubani-Al-Saleh-Teebi syndrome is based on clinical evaluation and the identification of characteristic features. Genetic testing may be used to confirm the diagnosis by identifying mutations in the gene associated with the syndrome.

Management

There is currently no cure for Lubani-Al-Saleh-Teebi syndrome, and management focuses on addressing the symptoms and improving the quality of life for affected individuals. This may involve:

• Physical therapy and occupational therapy to assist with developmental delays and improve motor skills.
• Speech therapy to help with communication difficulties.
• Regular monitoring and treatment of any associated medical conditions, such as heart defects.

See Also

• Genetic disorder
• Autosomal recessive inheritance
• Developmental delay
• Craniofacial dysmorphism