Parents are always vigilant about their children's health and development. However, Dr. Preeti Anand, Senior Consultant (Pediatrics and Intensive Care) at Max Smart Super Speciality Hospital, Saket, explains that the initial symptoms of some rare or genetic diseases in children can appear quite normal.

These rare diseases often present as a cluster of worrying symptoms, rather than a single clear sign. This article outlines eight red flags that should alert parents and prompt them to seek medical attention.

Developmental delays or forgetting previously learned things
Developmental delays: If your child is not learning to sit, smile, make sounds, or walk at a time comparable to other children their age.
Forgetting previously learned things: If the child stops performing previously learned tasks (such as stopping speaking or losing the ability to walk), this could be a very serious sign of a neurological or metabolic disease.
Seizures or abnormal body movements
If your child has frequent seizures, excessive limpness, a sudden change in gait, or abnormal body movements, don't ignore them.

Abnormal physical development: The child's head is too small or too large, or they remain short in height.

Failure to thrive: The child's weight and height fail to increase despite adequate and good nutrition.

Excessive weight gain may indicate a metabolic syndrome.

Abnormalities in facial or body structure: Specific facial features (such as wide distance between the eyes, a small mouth, a large tongue, or a delay in blinking eyelids).

Excessive fingertips or toes or abnormal limb length.

CHARGE syndrome: Some syndromes manifest as multiple conditions; for example, eye defects, heart disease, and ear abnormalities coexist. This is a clear indication to investigate a rare syndrome.

Frequent and severe infections
If a child has frequent and severe infections (such as repeated ear infections, pneumonia, sepsis, or deep fungal infections), this may indicate a weakening of the child's primary immune system.

Simultaneous problems in multiple body parts
Parents notice a lump in the child's abdomen, or yellowing of the skin or eyes.
The child has difficulty running or climbing stairs, or a young child sweats while breastfeeding. These symptoms warrant investigation for liver or heart disease.
Continuously increasing swelling of the legs, face, abdomen, or eyes.
Continuously abnormal medical tests and lab results
If a child's lab results are repeatedly abnormal, this is cause for concern. For example, an enlargement of the child's heart muscle or a persistent decrease in blood cells without an obvious cause may indicate a metabolic or storage disease.

Family History
If siblings or close relatives already have similar symptoms, there have been unexplained childhood deaths, repeated miscarriages, or a known genetic disorder in the family.
If parents are close relatives and the child shows any of the above symptoms, the likelihood of developing a rare genetic disorder increases significantly.

What should parents do?
According to Dr. Preeti Anand, the greatest risk and concern is when several of these symptoms appear simultaneously in the same child (for example: developmental delays, seizures, abnormal facial features, and stunted growth).

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