Singh–Chhaparwal–Dhanda syndrome

Singh–Chhaparwal–Dhanda syndrome is a rare genetic disorder characterized by a range of physical and developmental anomalies. This syndrome was first identified and described by researchers Singh, Chhaparwal, and Dhanda, after whom the syndrome is named. The condition is notable for its complexity and the variety of symptoms that can present in affected individuals.

Symptoms and Characteristics

Singh–Chhaparwal–Dhanda syndrome is marked by a constellation of symptoms, which may vary significantly among individuals. Common characteristics include craniofacial abnormalities, intellectual disability, and skeletal malformations. Patients may also exhibit growth delays, both prenatally and postnatally, leading to short stature. Eye abnormalities, hearing loss, and heart defects are other possible manifestations of this syndrome.

Genetics

The genetic basis of Singh–Chhaparwal–Dhanda syndrome remains under investigation. However, it is believed to follow an autosomal recessive pattern of inheritance. This means that for a child to be affected, they must inherit one mutated gene from each parent, who are likely asymptomatic carriers. The specific genes involved and the mutations that cause the syndrome have not been fully elucidated.

Diagnosis

Diagnosis of Singh–Chhaparwal–Dhanda syndrome is primarily based on clinical evaluation and the identification of characteristic symptoms. Genetic testing may help confirm the diagnosis but is contingent on the availability of information about the genetic mutations responsible for the syndrome. Prenatal diagnosis may be possible in families with a known history of the condition, through methods such as amniocentesis or chorionic villus sampling.

Treatment and Management

There is no cure for Singh–Chhaparwal–Dhanda syndrome, and treatment is symptomatic and supportive. Management strategies may include surgical interventions to correct physical malformations, therapies to support developmental skills, and routine monitoring for potential complications associated with the syndrome. A multidisciplinary approach involving pediatricians, geneticists, surgeons, and therapists is often necessary to address the complex needs of these patients.

Prognosis

The prognosis for individuals with Singh–Chhaparwal–Dhanda syndrome varies depending on the severity of symptoms and the presence of life-threatening complications. Early intervention and supportive care can improve the quality of life for many affected individuals.

See Also

• Genetic disorder
• Autosomal recessive inheritance
• Craniofacial abnormality
• Intellectual disability