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Congenital abnormalities
Congenital anomalies
Female, 1
My was born with asymmetric crying face and also her right foot big toe is abnormal and in that toe proximal phalanges is missing and it is bent like 90 degree and short. Left foot is normal. 2d echo and internal scan are done all are normal. Her development is completely normal till now. No family history.Is this condition genetic ?
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It can be genetic but not necessarily inherited. It can be sporadic or genetic change could be affecting few body cells . Consult your paediatrician for detailed examination.
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presentation shares characteristics with an isolated finding, which can sometimes occur randomly without an underlying genetic pattern. However, it is also consistent with a syndromic condition, such as Cayler cardiofacial syndrome or a 22q11.2 microdeletion, where asymmetric facial expressions are paired with musculoskeletal or limb anomalies.
Since your initial internal scans and echocardiogram are completely normal, the likelihood of a major systemic syndrome is lower. To explore this further, potential management options include seeking a formal clinical evaluation from a pediatric geneticist, pursuing targeted genetic testing (such as a chromosomal microarray), or consulting a pediatrician
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I need to ask few more questions before answering your query.
Kindly contact me on whatsapp chat
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Dr Faisal Zoheb
MBBS , MD PAEDIATRICS , PGPN (BOSTON), FELLOWSHIP IN NEONATOLOGY ( Newborn and vaccination specialist )
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A genetic cause is possible, but this does not necessarily mean it is inherited. It may also be a sporadic/de-novo abnormality, especially with no family history.
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Disclaimer : The content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding your medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.