Congenital deformity or birth defect means a deformity that a child was born with. In other word, structural or functional abnormalities present at birth are known as birth defects that cause physical or mental disability. Some birth defects may be fatal also. Some birth defects may not be evident at birth but may be evident at any time after birth.
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.
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.
There are various types of anomalies in rectum and anal canal, like absence of anus, narrow anus, abnormal position of anus. In absent anus, child can’t pass stool which needs urgent surgery. Reconstructive surgery (Anoplasty) as per direction of your surgeon will solve the problem.
Hermaphrodite / Intersex -disorder/ ambiguous genitalia: When the gender of the child cannot be differentiate whether male or female.
Early detection of problem and by proper treatment can assign them to be one gender – either male or female. Some of them can be father or mother also.
Otherwise after puberty and adolescent period they will be thrown out from family and also form society. They merge with their own Hermaphrodite society and may engage with unsocial activities and crimes.
Hypospadias: When external urethral meatus opened under surface of penis. Child cannot pass urine through the tip of penis. Usually glans (Distal part) penis is not covered with skin-like congenital circumcision. Minor problem does not need any treatment but major problems need surgical correction as it will hamper his conjugal life.
Epispadias: When external urethral meatus opened upper surface of penis. Child cannot pass urine through the tip of penis. Usually glans (Distal part) penis is not covered with skin-like congenital circumcision. Like hypospadias, minor problem does not need any treatment but major problems need surgical correction as it will hamper his conjugal life. It may associated with bladder exstrophy or ectopiavescicae.
Cloacal Anomaly: When there is a single perineal opening – all urine, stool comes through a single opening. There is no vaginal opening also. Multiple surgery step by step will solve the problem.
Absence of vagina (Vaginal Atresia/ Agenesis): Vaginal Atresia is a birth defect or congenital abnormality of the female genitourinary system that manifests itself in the absence of a vagina (vaginal agenesis), or a deformed and nonfunctional vagina (Vaginal Atresia).
In most cases there is absence of uterus in conjunction with a deformed or missing vagina, despite the presence of normal ovaries and normal external genitalia.
The situation is most urgent where the normal uterovaginal outflow is obstructed. In this case prompt medical action is required.
Treatment of Genital Anomalies:
Reconstructive surgery can repair the defect or a new vagina can be fabricated using an intestinal graft or any other grafts.
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.
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
Symbrachydactyly : Fused short fingers
Clinodactyly : Angulations’ of digit in the radioulnar plane more than 100° .
Camptodactyly : Painless flexor contracture of proximal interphalangial (PIP) joint.
Macrodactyly : Enlargement of one or more fingers and toes.
Club hand : Deformity of hand and forearm.
Arthrogyphosis: Congenital joint contracture.
Club foot: It is a congenital deformity involving one foot or both. Though all congenital deformity of foot once called club foot but now a day congenital talipes equinovarus (CTEV) is called club foot. The affected foot looks like it has been rotated internally at the ankle. Without treatment, people with club feet often appear to walk on their ankles or on the sides of their feet.
It is a relatively common birth defect. It occurs in males twice as frequently as in females.
Diagnosis: Clinical. No investigations needed for diagnosis. X-ray needed to see the extension of diseases.
Treatment: Depends upon the age of the child. Before the age of one year serial casting (Plaster) by Ponseti method may be or may not be followed by simple operation (Tenotomy). Surgical treatment – if the child visits the doctor after his/her one year of age.
Each case is different, but in most cases extensive surgery is not needed to treat clubfoot.
Congenital dislocation of Hip:
One or both hip joint may be displaced during birth process, which should be properly treated soon after diagnosis otherwise child will be crippled.
Congenital genu recurvatum, genu varus(bow knees/ Blount’s Disease):
Lower limb may develop bow like either inward or out ward. With development/growth of child these may cured naturally. A mild case does not need any treatment. Sometimes these may need surgical correction.
Congenital Pseudoarthrosis of tibia:
Leg may be angulated congenitally like a false joint.
Treatment: Surgical correction as early as possible.
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.
Congenital chest wall deformity can be categorized as either rib cage overgrowth or deformities related to inadequate growth (aplasia or dysplasia). Rib cage overgrowth leads to depression of the sternum (pectus excavatum) or protuberance of the sternum (pectus carinatum)-accounts for more than 90% of congenital chest wall deformities. The remaining deformities are a result of inadequate growth like sternal cleft.
Treatment: Correction of chest deformities by Surgery.
Hypertelorbitism: Both eyes are more apart and widened nasal root.
Treatment: Surgery, at 5-8 years of age by multidisciplinary team approach including neurosurgeon, eye surgeon, pediatric surgeon, orthopedic surgeon etc.
Craniosynostosis – Congenital deformity of head. Premature fusion of one or more sutures (joints) of cranial (Skull) bones is called Craniosynostosis. It causes deformity in the shape of head as well as small head also which may results in increased intracranial pressure (symptoms- vomiting, visual disturbance, bulging anterior fontanel, altered mental status, papilledema, headache, etc), obstructive sleep apnea (symptoms- difficulty in breathing, snoring, day-time sleepiness and perspiration), neurobehavioural impairment includes problems with attention and planning, processing speed, visual spatial skills, language, reading and spelling. A decreased IQ may also be part of the problems.
Treatment: Surgical intervention between 6-12 months of age by multidisciplinary approach including neurosurgeons
There are various types of nasal deformity that may be congenital or acquired (Accidental/Traumatic, due to disease) like Saddle nose, Bifid nose, nasal deformity with cleft lip, traumatic deformity, etc. The procedure of correction of nasal deformity is called Rhinoplasty. In other word, rhinoplasty means nose reconstruction or reshaping that creates a more attractive and proportioned nose by changing its size, slope or shape.
There is no fixed time. It depends upon the type of nasal deformity. Sometimes it can be performed during the lip repair of cleft lip patients.
Your surgeon will make an incision, usually placed within the nostril to the framework of the nose. Cartilage is then sculpted away to reduce the size or shape. If the opposite result is desired, tissue may be added to increase the size of the nose. Nose reconstruction may need silicon implants or cartilage from patient’s ear or chest depending upon the defect. The septum may be trimmed to correct droopiness or may be realigned to correct breathing problems.
A rhinoplasty procedure can take from one to three hours, depending on the complexity of the procedure. This surgery is done on an outpatient basis with general anesthesia. Sometimes patient may need admission in hospital. Because safety is our first concern, we always work with board-certified anesthesiologists to ensure that your surgery is as safe as possible. Following your surgery, you will be able to rest in the comfort of your own home.
Cheek and/or chin implants may be recommended to enhance the results of your rhinoplasty. Please discuss these additional options with your doctor.
Congenital ear defects –deformity in ear lobule, Microtia, etc.
In some cases these deformities can cause hearing loss, and they can also be embarrassing for children, so early intervention is important.
Congenital Ear deformity may be-
Congenital ear deformity:
Microtia – This is abnormal growth of the external ear. May be associated with hearing loss. Microtia can range in severity from a minor ear fold to a marked absence of ear development, where a small tag of skin and cartilage are the only signs of an external ear.
Atresia of ear– Complete absence of the external ear canal, which is almost always accompanied by abnormalities of the middle ear bones, as well as the external ear.
Children can suffer from one of these types of congenital ear deformities, or both may be present at the same time. Also, these two conditions can occur in one or both ears. Congenital ear deformities can be associated with other syndromes like Treacher Syndrome, Goldenhar Syndrome, etc.
Diagnosis: Clinical
Treatment: Ear reconstruction according to type of deformity with or without hearing Aid.
Torticollis (Wryneck or twisted neck):
It is a postural deformity of head and neck detected at birth or shortly after birth, primarily resulting from unilateral fibrosis & shortening of the Sternocleidomastoid muscle (Anterior neck muscle). The head is therefore rotated away from & tilted toward the involved sternocleidomastoid muscle. History, physical examination & clinical progression can do the diagnosis but in some cases ocular, neurological evaluation and radiological investigation of cervical spine is necessary.
Treatment: Treatment depends upon the age of patient. Patient of below 1 year of age, treatment is conservative – Physiotherapy and above one year of age – treatment is surgery.
Macromastia/ Hypertrophy of breast: Excessively large Female breasts.
Treatment: Breast Reduction (Reduction mamoplasty)
Breast asymmetry: Sometimes female breasts may develop asymmetrically.
Treatment: As per need.
Breast atrophy (Small Breast): In female breast may be smaller in size according to her age and body.
Treatment: Breast Augmentation. or Mamoplasty – artificial (Silicon) breast implant may need.
Pediatric Plastic Surgery deals with congenital (Birth defects) and acquired deformities of children and young adults who require reconstructive surgery. It was started first by an unidentified chinese physician in 390 A.D. Who did the first cleft lip repair.
Most of the birth defects can be diagnosed accurately without any investigations, but investigations will be needed prior to plastic surgery to see the physical fitness of children and also to see the extension of the disease.
If possible birth defects should be corrected within 1 year of age. It will give best result in physical development, psychological development and in social aspects.
To improve the physical and physiological function as well as aesthetics.
Dr. Bijoy Krishna Das (B K Das) is an expert in the field of pediatric plastic surgery. He devotes himself to correct the physical deformities of children and adolescents.
