In an article written by Judith Tan for The Straits Times, it highlighted the rare diseases that are passed down genetically. The story follows a family in Singapore, a baby that was born in 2020. When Rania was born she barely cried and had a significantly floppy airway. Through various surgeries, they were able to readjust the excess tissue and gave her a tracheostomy. After genetic testing, they found out that she has a rare genetic disorder called Kaufman oculocerebrofacial syndrome.
There have been less than 100 cases recorded worldwide and only 36 of them have been properly diagnosed. This disorder is known to have unusual craniofacial features, intellectual disabilities and several congenital anomalies. “Affected children are predisposed to having things like abnormally shaped eyes; visual impairment; hearing loss; floppy airways, which affect breathing and feeding; structural heart malformation; developmental delay; among other physical differences, Prof Chin said” (Tan, 2025). It is usually different for each individual.
The diagnosis of KOS is usually determined through a biallelic UBE3B pathogenic variant. “Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing, multigene panel) and comprehensive genomic testing (exome sequencing, genome sequencing) depending on the phenotype” (NIH: Kaufman Oculocerebrofacial Syndrome, 2022).
Brabbing-Goldstein, D. (2022, July 28). Kaufman oculocerebrofacial syndrome. GeneReviews® [Internet]. https://www.ncbi.nlm.nih.gov/books/NBK390670/
Tan, J. (2025, October 12). Two of her children were diagnosed with rare genetic disorder, with son dying months after birth. The Straits Times. https://www.straitstimes.com/singapore/health/two-of-her-children-were-diagnosed-with-rare-genetic-disorder-with-son-dying-months-after-birth
