The story of baby Nadra Nelyssa recently captured hearts on social media after her mother, known as Wawa on TikTok, shared videos revealing her daughter’s condition. Nadra was born without fully formed fingers and toes, a visible feature of the disorder.
Despite her limb differences, Wawa shared that Nadra is otherwise healthy, with normal internal organ development and physical growth. Her videos quickly went viral, drawing nearly five million views and an outpouring of encouragement, prayers and support from across the country.
Beyond admiration for a mother’s strength, the story has also sparked wider awareness about Roberts syndrome and the challenges faced by children born with rare genetic conditions.
What is Roberts syndrome?
According to consultant paediatrician and neonatologist Dr Lee Mei Ling, Roberts syndrome is an autosomal recessive genetic disorder caused by mutations in the ESCO2 gene.
“The ESCO2 gene plays a role in chromosome division and organisation during cell development,” she explained. “This syndrome presents features such as short arms and legs, absent or missing fingers or toes, curved digits, and sometimes facial abnormalities such as a small nose.
“Absence of limbs or significantly shortened arms and legs are among the most prominent characteristics seen in babies with Roberts syndrome.”
Lee said the condition is extremely rare, affecting only a very small number of people worldwide, because it only occurs when both parents carry the genetic trait and pass it on to their child.
“The number of cases in Malaysia is very small. However, the risk still exists, particularly for parents with a family history or who are known carriers of the Roberts syndrome gene.
“If parents have previously had a child with this syndrome, the risk of the condition recurring in subsequent pregnancies is 25% due to its autosomal recessive inheritance,” she said.
According to Lee, signs of Roberts syndrome may be detected during pregnancy, often through ultrasound scans in the second trimester.
Doctors may observe abnormal or delayed limb growth, including missing or shortened bones in the hands and feet. However, because its features can resemble other genetic conditions, further testing is usually required.
“The most definitive method for detecting abnormalities in a foetus is through genetic and chromosomal testing, such as karyotyping. Through this test, specialists can detect specific mutations or chromosomal structural abnormalities associated with Roberts syndrome,” she said.
Living with Roberts syndrome
Elaborating further, Lee said life expectancy for children with Roberts syndrome varies widely, depending on the severity of physical deformities and whether internal organs or the central nervous system are affected.
“Some individuals have a very short life expectancy, while others may live longer with appropriate medical support and comprehensive care,” she outlined.
“Prognosis is closely linked to the extent of physical malformations and involvement of the central nervous system. In severe cases, the condition often results in death at the prenatal stage.”
For families, long-term care plays a critical role. “Babies born with Roberts syndrome require continuous monitoring by specialists, including paediatricians, geneticists, and other relevant medical professionals.
“They also need intensive and ongoing physiotherapy and occupational therapy to help improve motor skills and daily functional development, and to achieve the best possible developmental outcomes and quality of life according to their individual capabilities.”
Emotional support is just as important as medical care: hospitals provide counselling services to help parents cope with the psychological challenges of raising a child with a rare condition, alongside genetic counselling to support future family planning.
“Parents are advised to remain patient, seek accurate information from medical professionals, and consistently adhere to the treatment and therapy plans provided for their child,” Lee concluded.
“We strongly encourage parents to obtain emotional and psychosocial support not only from healthcare professionals but also from those around them, to ensure the overall well-being of the parents and family.”