Teebi–Shaltout syndrome

Teebi–Shaltout Syndrome

Teebi–Shaltout syndrome is a rare genetic disorder characterized by a distinct set of craniofacial and skeletal abnormalities. It was first described by Teebi and Shaltout in 1989. The syndrome is inherited in an autosomal recessive manner, meaning that two copies of the mutated gene, one from each parent, are required for an individual to be affected.

Clinical Features

Individuals with Teebi–Shaltout syndrome typically present with a combination of craniofacial dysmorphism, skeletal anomalies, and other systemic manifestations. The key clinical features include:

• Craniofacial Dysmorphism: This includes hypertelorism (increased distance between the eyes), a broad nasal bridge, and a prominent forehead. The facial appearance is often described as coarse.
• Skeletal Anomalies: Patients may exhibit short stature, brachydactyly (short fingers and toes), and other limb abnormalities.
• Developmental Delay: Some individuals may experience mild to moderate developmental delays or intellectual disabilities.
• Other Features: Additional features may include congenital heart defects, genitourinary anomalies, and hearing loss.

Genetics

Teebi–Shaltout syndrome is caused by mutations in a specific gene, although the exact gene responsible has not been definitively identified. The inheritance pattern is autosomal recessive, which 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.

Diagnosis

Diagnosis of Teebi–Shaltout syndrome is primarily clinical, based on the characteristic features observed in the patient. Genetic testing may be used to confirm the diagnosis and to identify carrier status in family members.

Management

There is no cure for Teebi–Shaltout syndrome, and treatment is symptomatic and supportive. Management may involve:

• Multidisciplinary Care: Involving specialists such as pediatricians, geneticists, orthopedic surgeons, and speech therapists.
• Surgical Interventions: To address specific anomalies such as heart defects or skeletal deformities.
• Developmental Support: Including physical, occupational, and speech therapy to assist with developmental delays.

Prognosis

The prognosis for individuals with Teebi–Shaltout syndrome varies depending on the severity of the symptoms and the presence of associated complications. Early intervention and supportive care can improve quality of life and developmental outcomes.

Also see

• Genetic disorders
• Craniofacial syndromes
• Skeletal dysplasia
• Autosomal recessive disorders

NIH genetic and rare disease info

• NIH info on Teebi–Shaltout syndrome

Teebi–Shaltout syndrome is a rare disease.

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