Roberts Syndrome: A Rare Genetic Disorder
A recent viral story on social media tells of a fair-skinned baby with long eyelashes who, at first glance, appears no different from any other infant.
Few would have guessed that the nine-month-old baby is actually living with Roberts syndrome, an extremely rare genetic disorder.
The story, shared by a woman known as Wawa on her TikTok account, touched the hearts of many when she revealed the condition of her daughter, Nadra Nelyssa, who was born without fully formed fingers and toes — unlike other children her age.
According to Wawa, despite being blessed with a special child who has limb deformities, Nadra is healthy in terms of her internal organs and physical growth, a sign that she is developing well overall.
Nadra’s story drew widespread attention on TikTok, with videos related to the baby garnering nearly five million views and an outpouring of prayers and words of encouragement for both mother and child.
Beyond admiration for the mother’s resilience, the story has also opened many eyes to the challenges and uniqueness of children born with Roberts syndrome.
RARE CONDITION
Commenting on the disorder, Consultant Paediatrician and Neonatologist at Sunway Medical Centre Velocity (SMCV) Dr Lee Mei Ling said Roberts syndrome, also known as Pseudothalidomide, is an autosomal recessive genetic disorder caused by mutations in the ESCO2 gene (Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2).
She explained that the mutation disrupts normal cell division, resulting in physical abnormalities, particularly affecting the limbs such as the hands and feet.
“The ESCO2 gene plays a role in chromosome division and organisation during cell development,” she said.
“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,” she told Bernama.
Dr Lee said Roberts syndrome is classified as a rare disease as it affects only a very small portion of the population.
(Internet searches indicate that fewer than 200 cases have been reported worldwide to date, with only about 80 cases officially diagnosed through genetic testing. In Malaysia, confirmed cases include Nadra and one other case involving a 15-year-old teenager reported in 2024. Overall, the Ministry of Health Malaysia estimates there are around 13,000 children living with various rare diseases in the country, with Roberts syndrome accounting for only a very small number.)
She added that the likelihood of developing the disorder is extremely low compared to other known genetic conditions.
“This is because the syndrome 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 per cent, due to its autosomal recessive inheritance,” she said.
DIAGNOSIS
Elaborating further, Dr Lee said early signs of the syndrome can be detected or diagnosed through ultrasound examinations conducted during pregnancy, particularly in the second trimester, when the baby’s organs and structure can be seen more clearly.
Through such scans, doctors may identify delayed or abnormal limb growth, including missing or shortened bones in the hands and feet of the foetus.
Specialised ultrasound examinations are important for accurate diagnosis, as the symptoms of Roberts syndrome may resemble those of other genetic abnormalities.
“The most definitive method for detecting abnormalities in a fetus is through genetic and chromosomal testing, such as karyotyping, which analyses the size, shape and number of chromosomes in a cell sample, including blood cells.
“Through this test, specialists can detect specific mutations or chromosomal structural abnormalities associated with Roberts syndrome,” she said.
TREATMENT AND MANAGEMENT
Dr Lee said the life expectancy of children with Roberts syndrome depends largely on the severity of their physical deformities and whether there are complications involving internal organs.
“Some individuals have a very short life expectancy, while others may live longer with appropriate medical support and comprehensive care.
“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.
“Genetic counselling is crucial for parents who have been confirmed to have a child with this syndrome, given the 25 per cent risk of recurrence in each subsequent pregnancy,” she added.
According to Dr Lee, individuals with Roberts syndrome face significant challenges in leading a normal life due to physical disabilities.
However, she stressed that with holistic medical support, continuous therapy and appropriate assistive devices, their quality of life can be improved, enabling them to carry out daily routines similar to others.
“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, daily functional development, and to achieve the best possible developmental outcomes and quality of life according to their individual capabilities,” she said.
Dr Lee added that hospitals also provide emotional support and counselling services to help parents understand their child’s condition, including the emotional and psychological challenges they may face.
In addition, comprehensive genetic counselling is offered to assist parents in managing expectations for future pregnancies and in 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.
“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,” she said.
— BERNAMA
