Bhaskar–Jagannathan syndrome

Overview

Bhaskar–Jagannathan syndrome is an exceptionally rare genetic disorder, with very limited documentation in medical literature. Due to its rarity, the clinical features and underlying mechanisms are not well defined. It is believed to be a multisystem congenital syndrome, likely involving developmental anomalies and possible neurological and musculoskeletal manifestations. The syndrome was initially identified and named after the physicians Bhaskar and Jagannathan, who described the condition based on one or a few case observations.

Causes

The exact cause of Bhaskar–Jagannathan syndrome remains unknown. It is presumed to be genetic in origin, potentially due to a mutation affecting embryonic development. Given the scarcity of reported cases, the responsible gene or chromosomal region has not been clearly identified. There is no established inheritance pattern, though a congenital basis is suspected based on early-onset presentation in affected individuals.

Symptoms

As only isolated case(s) have been described, the complete symptom profile of Bhaskar–Jagannathan syndrome is not fully known. However, based on initial reports, symptoms may include:

• Developmental delays – including cognitive and motor impairments

• Skeletal abnormalities – such as joint contractures or limb deformities

• Facial dysmorphism – unique craniofacial features that may assist in clinical identification

• Neurological signs – possibly including hypotonia or seizures

• Growth retardation – with reduced height and weight compared to age norms

Symptoms likely vary from case to case due to the incomplete understanding of the syndrome’s spectrum.

Diagnosis

Diagnosis of Bhaskar–Jagannathan syndrome is clinical and highly dependent on recognition of the reported features in combination. The diagnostic workup may include:

• Detailed clinical evaluation – to identify developmental, musculoskeletal, and facial anomalies

• Genetic testing – such as whole-exome sequencing to identify potential causative mutations

• Radiological imaging – to detect skeletal or brain abnormalities

• Multidisciplinary assessment – involving pediatricians, neurologists, and geneticists

Because of its rarity, diagnosis may be challenging and may require referral to a specialist center or research institution.

Treatment

There is no cure for Bhaskar–Jagannathan syndrome, and treatment is supportive and symptomatic, aimed at improving quality of life. Management may involve:

• Physical and occupational therapy – to address motor delays and musculoskeletal issues

• Speech and behavioral therapy – for developmental and communication support

• Orthopedic interventions – such as braces or surgery if skeletal deformities are present

• Neurological management – including seizure control if applicable

• Regular monitoring and supportive care – across multiple specialties

Prognosis

The prognosis for individuals with Bhaskar–Jagannathan syndrome is currently unknown due to the extremely limited number of documented cases. Outcomes likely depend on the severity and combination of clinical features. Early diagnosis and comprehensive supportive care can improve developmental outcomes and quality of life. As more cases are identified and studied, greater clarity on long-term prognosis and disease progression may emerge.