Introduction: A Silent Birth and a Silent Struggle
When Rania Safiyya Ridzwan was born in 2020 in Singapore, the delivery room was unusually quiet. She did not cry, and her mother, Madam Sri Syazwani Mohd Yazid, recalls a scene that would foreshadow a challenging journey ahead. What began as a routine birth soon revealed a rare genetic disorder that would shape the family’s life for years to come.
Diagnosing the Unknown: Kaufman Oculocerebrofacial Syndrome (KOS)
Rania’s early days involved intensive care, with doctors managing a floppy airway and breathing difficulties that required intubation, high oxygen support, and ultimately a tracheostomy. After several genetic tests, clinicians diagnosed Kaufman oculocerebrofacial syndrome (KOS), a congenital disorder caused by mutations in both copies of a gene. Fewer than 100 KOS cases have been reported globally, with only 36 documented in scientific literature. This rarity means prenatal testing often misses it, as standard screens focus on chromosomal abnormalities rather than specific gene mutations.
What KOS Means for Rania
Prof Chin Hui-Lin of Khoo Teck Puat – National University Children’s Medical Institute explains that KOS manifests with a spectrum of features. Rania’s most severe issue – her airway structure – is not visible on routine prenatal scans. Vision and hearing challenges, feeding difficulties, and potential heart malformations are part of the broader profile. The condition’s variability means each child with KOS can present differently, complicating prognosis and care plans.
Daily Realities: Breathing, Feeding, and Kidney Health
As Rania grew, she required ongoing respiratory and ENT support. A feeding tube (gastronomy tube) helped manage nutrition, while surgeries addressed reflux and airway concerns. Her tracheostomy remained a critical lifeline, especially during illnesses when phlegm production increases. Specialists hope to eventually remove the tracheostomy, but only if respiratory stability allows it.
In addition to airway issues, Rania was diagnosed with bilateral renal hypoplasia, meaning both kidneys are smaller than normal. Current kidney function sits at about 70–80%, but this could decline over time, potentially necessitating a transplant in the future. Multidisciplinary care at KTP-NUCMI continues to monitor and manage these evolving needs.
A Family Tested by Tragedy and Resilience
Rania’s father, Mr Ridzwan Kamis, described a moment of shock at the diagnosis, contrasted by a steadfast resolve to support his wife and daughter. The couple, who already faced the birth of two healthy sons, learned that their family’s trajectory would require perseverance, faith, and a strong support network. The couple’s bond strengthened as they navigated medical decisions and day-to-day caregiving duties, including home training for complex medical needs after discharge.
A Second Child Faces the Same Battle and a Lossful Turn
In 2022, Syazwani became pregnant again. A 22-week scan confirmed the fetus also carried KOS. The baby, Muhd Ruwaiq Syaihan, was born in December 2022 and faced a grueling nine months of hospital care, including two open-heart surgeries. Though he showed moments of affection that comforted his mother, his health deteriorated at home and he died on her birthday after a failed resuscitation attempt. The loss compounded the family’s grief and underscored the relentless challenges posed by rare genetic disorders.
Hope, Care, and the Path Forward
Rania remains a lively, boisterous presence in the family. Her elder brothers often sneak into her bed, reflecting a deep sibling bond and a shared commitment to her well-being. Parents acknowledge an uncertain future for Rania, recognizing that speaking, walking, or other milestones may proceed at an individual pace. The family remains united with clinicians and a broader medical community to optimize her quality of life and explore options as research into rare genetic conditions advances.
About Kaufman Oculocerebrofacial Syndrome
KOS is a rare congenital disorder due to autosomal recessive mutations. It is characterized by distinctive facial features, intellectual and developmental challenges, and various congenital anomalies that vary in severity. Prenatal testing typically does not detect KOS, highlighting the importance of postnatal genetic evaluation for unexplained neonatal complications and feeding or breathing difficulties.
Category and Perspective
Category: Health and Family Welfare | Tag: rare genetic disorders, KOS, congenital anomalies, neonatal care, Singapore health news
