Any deviation from normal vasculature in human body during developmental process
The exact cause for this defect is often unknown. The probable causes are-
Diseases of mother during pregnancy like-
Maternal nutrition during pregnancy
Radiations during pregnancy
Exposure to various intoxication of parents even before pregnancy
Age of parents (Both early/late paternal and maternal age)
Consanguinity ( Parents are cousin /close blood relatives of each other)
Psychological upset of mother during pregnancy. etc.
In some cases it may be an indicator of other more serious underlying conditions, such as testicular cancer.
So, always check with your doctor before using any medication or supplement while you are pregnant
Sometimes these need to multi disciplinary team approach and I do this.
Epigastric Hernia: Reducible swelling on abdomen any where in midline above umbilicus. It will gradually increase in size. Though it is not problematic initially, it will be pain full and will be problematic with time.
Treatment: Surgical.
Umbilical hernia: Congenital hernia (reducible swelling) through umbilicus. It becomes more prominent when the child cries. Most of the umbilical hernia does not need any treatment; they are cured naturally within 5-6 years of life. If they persist or become problematic, they must be treated by surgery.
Para umbilical hernia: Hernia (reducible swelling) around the umbilicus. Usually it appears when the child cries. Treatment is surgery.
Inguinal Hernia: Hernia (reducible swelling) at inguinal region. Usually it appears when the child cries. Treatment is emergency surgery, otherwise it may become life threatening at any time.
Exomphalous: Congenital defects in umbilicus. Some may need emergency surgery.
Gastroschrisis: Congenital defect in umbilicus, through which abdominal organs come out. This is a life threatening condition. Child may not survive. Treatment is emergency surgery.
Bladder exstrophy-Epispadias complex:
Congenital defect of urinary bladder and lower abdomen, with or without genital defect. Anterior wall of urinary bladder and lower abdominal wall was not formed. As a result urinary bladder exposed and urine always comes out. There may be associated external genital problems. These patients are socially unacceptable for their foul smell of urine. Their conjugal life will be hampered also. Preferable treatment is surgical correction within 48 hours of life
Syndactyly: Variable fusion of one or more adjacent fingers.
Treatment: Surgical Correction.
Apert’s Syndrome: Is the combination of craniofacial deformity with complex syndactyly of hands and feet.
Treatment: Surgical Correction.
Polydactyly: Extra digit of hands and feet.
Mirror Hand : Symmetrical duplication of limb at midline. Fingers are paired on that hand. There are 6 or 8 symmetrical fingers.
Brachydactyly : Short fingers
Cleft Hand : V-Shaped cleft in the center of the hand
Absence of the fingers:
Treatment: Finger transplantation/ Artificial finger
Cleft Foot: V-Shaped cleft in the center of the foot. Treatment of Limb Anomalies: Almost all congenital limb anomalies need surgical correction. Some may not need surgery like club foot if attend neonatal period.
To diagnose any birth defects, we have to check natural orifices of new born like Mouth cavity, Ear, Nose, Genitalia, Anal orifice. Cleft lip and facial clefts are externally visible defects.
We may do some investigations like Echocardiography, Complete Blood Count, BT, CT, CXR, etc. in suspected patients and for evaluation of fitness for operation.
Treatment is operation for any kinds of oro-facial clefts if patient is fit for operation. So, such baby should be under supervision of a cleft surgeon just from birth. Surgeon will guide the parents how to feed, how to take care of baby.
From the age of 3 years, but can be given earlier along with behavioral therapy if needed.
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3. Saeed BO, Moore MG, Zawahrah H, Tayem M, Kavoosi T & van Aalst JA. (2019). The Influence of Consanguinity on Familial Clefting Among Palestinians. The Cleft Palate-Craniofacial Journal; 56 ( 8), 1072-1079
4. https://www.clapa.com/
5. Rejeev BR, Prasad KVV, Shetty PJ, Preet (2017). The relationship between orofacial clefts and consanguineous marriages: A hospital register-based study in Dharwad, South India. Journal of Cleft Lip Palate and Craniofacial Anomalies ;4(1):3-8.
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