Sanjad–Sakati syndrome

A rare genetic disorder

Sanjad–Sakati syndrome is a rare autosomal recessive genetic disorder characterized by a combination of congenital hypoparathyroidism, growth retardation, and distinct dysmorphic features. It is also known as hypoparathyroidism-retardation-dysmorphism syndrome (HRD) and is most commonly observed in individuals of Middle Eastern descent.

Genetics

Sanjad–Sakati syndrome is caused by mutations in the TBCE gene, which is located on chromosome 1q42-q43. The TBCE gene is responsible for encoding a protein involved in the assembly of the tubulin complex, which is crucial for microtubule formation. The disorder follows an autosomal recessive pattern of inheritance, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.

Autosomal recessive inheritance pattern

Clinical Features

The clinical presentation of Sanjad–Sakati syndrome includes a variety of symptoms:

• Hypoparathyroidism: This leads to low levels of calcium in the blood, resulting in hypocalcemia and associated symptoms such as tetany, seizures, and muscle cramps.
• Growth Retardation: Affected individuals often exhibit significantly reduced growth, leading to short stature.
• Dysmorphic Features: These may include a small head (microcephaly), deep-set eyes, a beaked nose, and a small mouth.
• Developmental Delay: There is often a delay in reaching developmental milestones, and intellectual disability may be present.

Diagnosis

Diagnosis of Sanjad–Sakati syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the TBCE gene. Biochemical tests revealing hypocalcemia and low parathyroid hormone levels support the diagnosis.

Management

Management of Sanjad–Sakati syndrome is primarily supportive and symptomatic. Treatment focuses on correcting hypocalcemia through calcium and vitamin D supplementation. Regular monitoring of calcium levels is essential to prevent complications. Growth and developmental support, as well as early intervention programs, can help improve quality of life.

Prognosis

The prognosis for individuals with Sanjad–Sakati syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. With appropriate treatment, many individuals can lead relatively normal lives, although they may require ongoing medical care.

Related pages

• Hypoparathyroidism
• Autosomal recessive disorder
• Genetic disorder