The symptoms of Kdvs syndrome can vary, but commonly include delayed speech, low muscle tone, seizures, undescended testicles, and abnormalities in the heart, kidney, or bladder.
Here's a more detailed breakdown of these symptoms:
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Delayed Speech: Individuals with Kdvs syndrome often experience a noticeable delay in developing speech and language skills compared to their peers.
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Low Muscle Tone (Floppiness): Hypotonia, or low muscle tone, is a frequent finding. This can lead to difficulties with motor skills such as sitting, crawling, and walking. Infants may appear "floppy" or have decreased muscle control.
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Seizures: Seizures are another commonly reported symptom. The type and severity of seizures can vary considerably among affected individuals.
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Undescended Testicles (Cryptorchidism): In males with Kdvs syndrome, one or both testicles may fail to descend into the scrotum.
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Abnormalities in the Heart, Kidney, or Bladder: Congenital anomalies affecting these organs can occur, requiring specialized medical attention. These can range in severity and may require surgical intervention.
It's important to note that the severity and presentation of these symptoms can vary greatly among individuals with Kdvs syndrome. Diagnosis typically involves genetic testing and clinical evaluation by a medical professional.
