Abstract

Purpose:
This case report explores Trichohepatoneurodevelopmental syndrome (THNS), a rare autosomal recessive disorder characterized by developmental abnormalities, hepatic dysfunction, and more. The case presentation and genetic analysis shed light on this rare condition.

Methods:
A 2-year-old male, born to consanguineous parents, underwent clinical examination and genetic testing. Extensive investigations, including blood tests, radiological studies, and genomic testing, were conducted.

Results:
The child exhibited typical THNS features, such as developmental delay, facial dysmorphism, hepatic issues, immunodeficiency, and ophthalmic anomalies. Genomic testing revealed a homozygous likely pathogenic variant in the CCDC47 gene, confirming the diagnosis.