What Is a Charge Syndrome?
It is a genetic syndrome associated with many known symptoms and abnormalities that affects almost one in 10,000 newborns. The word ‘charge’ is an acronym for coloboma- a defect where a fissure is commonly found at the back of an eye, heart defect, or atresia choanae. Atresia choanae is a developmental defect where the back of the nasal passage is blocked, narrowed, or not connected to the throat. Individuals with this syndrome might have varied associated malformations. Usually, it depends on the infants already suffering from prenatal conditions.
However, there are a few specific characteristics seen in newborns that are only found in charge syndrome. Because of its multi-organ involvement, it is sometimes difficult to manage the syndrome in young ones. It is commonly seen that babies with this syndrome have to go through multiple surgeries in their lives. Additionally, children born with charge syndrome have typical features like short fingers, broad palms, small heads, and small thumbs.
What Are the Causes of Charge Syndrome?
There is one reason behind this disorder, which is a genetic mutation. If a child carries abnormal genes from biological parents, they are likely to be born with this disorder. The gene that is typically involved in this abnormality is CHD7.
What Are the Signs and Symptoms of Charge Syndrome?
As the name suggests, there are usually six abnormalities connected with this syndrome; these are:
Dysmorphic Features:
Coloboma: It is a developmental disorder affecting one or both parts of the eyes (retina and, or iris). Retinal coloboma is more typically seen with visual impairments than iris coloboma. Usually, it is seen as a cleft or groove of the eye’s structures.
Ear Abnormalities: This abnormality usually represents short, wide, and snipper ears with occasional missing ear lobes. Additionally, there is a malformation of the inner and middle ears also seen upon diagnosis.
Dysmorphia: The child is born with a usually square-shaped deformity of the face. Also, the bifrontal diameter is narrow, with a wide nasal bridge and inverted small v-shaped lips.
Growth and Development:
Atresia Choanae: When there is a blockage or narrowing of the gap between the nasal cavity and throat, it is called atresia choanae. It is the prime feature that represents and confirms the charge syndrome in newborns. The atresia choanae are seen in boney form or membranous form on one or both sides.
Retardation Related to Development and Growth: Although the child might be born with normal to low birth weight. However, postnatal growth is seen due to developmental abnormalities and post-operative complications.
Cleft Lip: During the developmental stage of the embryo, when the two halves of the lips do not fuse, it creates cleft lips. There are one or two-sided cleft lips seen associated with this disorder.
Cleft Palate: When there is a gap or split found on the roof of the mouth, it is called a cleft palate. It may or may not be seen with a cleft lip in newborns.
Short Height: The overall stature of the baby is affected by this disorder.
Behavior Signs: Newborns with charge syndrome usually show behavior changes such as repetitive behavior, seeking bright colors and strongly flavored food, and difficulty in focusing and paying attention.
Cardiac:
Heart Defects: This defect is seen in almost 75 % to 80 % of cases involving ventricular-septal or mitral valve defects.
Renal:
Renal Hyperplasia: Adrenal glands are the organs attached above the kidneys, and any abnormality or defects in them can cause renal hyperplasia.
Neurological:
Facial Palsy: Due to damage to the facial nerve, the atrophy of the facial muscle is seen.
Cranial Nerve Dysfunction: There are twelve cranial nerves that are involved in the motor and sensory functions of the body. Any damage or defect of the nerve can affect functions such as facial expressions, speech, swallowing, taste, and smell. Owing to this, newborns with this disorder are often diagnosed with motor and sensory impairment.
Gastrointestinal Tract (GIT):
Esophageal Atresia: When a tube that connects the mouth to the stomach is abnormally developed, it is known as esophageal atresia. Normally, babies with these symptoms also have low growth in the body due to feeding difficulties.
Genital:
Structural abnormalities related to genitals are often seen in males more than in females.
How to Diagnose the Charge Syndrome?
There are a few diagnostic options used for charge syndrome, such as
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Case History: It is an essential part of a successful diagnosis. If a doctor can take a detailed case history, it might receive much important information about family history or any other complication that a child might have.
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Physical Examination: It is important to look for any physical defects before the final diagnosis is made. As the syndrome represents many typical symptoms and signs, it can be an important aspect of the diagnosis.
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Genetic Diagnosis: Genetic testing is done to look for any abnormality that a child might have inherited from either of his biological parents. The testing can rule out the differential diagnosis, other associated conditions, risk of carrying the abnormal genes, and, most importantly, if the child already has an anomaly before birth.
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Computed Tomography (CT) Scan: This diagnostic method is used to check for any internal abnormalities in children.
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Radiographs: This investigation method can reveal any deformation or abnormality related to organs or bones.
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Magnetic Resonance Imaging (MRI): If there are any internal organ or tissue-related abnormalities, this diagnostic option can reveal that.
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ENT and Feeding Assessment: As the syndrome affects the eye, nose, and ear, this assessment can be done to know the progress and severity of the disorder.
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Ophthalmology Assessment: Since the syndrome affects the eyes, this test can reveal if the child is suffering from any vision impairment.
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Cardiac Assessment: This diagnostic method reveals any abnormality or deformity related to the heart and its functions.
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Endocrine And Gynecologic Assessment: This diagnostic method is used to check for any hormonal imbalance or gynecological problems.
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Immunological Assessment: It checks for immunity and allergies in the child.
How to Treat Charge Syndrome?
As the syndrome affects many systems in the body, the management or treatment for this syndrome is comparatively difficult. Often, there are multi-specialty healthcare providers involved in the treatment due to the same reason. Structural abnormalities can be surgically treated with reconstruction or plastic surgeries. Many children face conditions like sleeping disorders and irregular breathing with sleep. For them, conventional treatments are suggested by pediatricians.
Hearing aid and sign language can be used as supportive therapies in children with hearing and speech disabilities. There are a few surgical treatments suggested according to organ involvement and symptoms, such as:
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Tracheostomy: As the disorder affects airway passage, this line of treatment is suggested to stabilize breathing.
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Gastrostomy: It is the treatment used for the abnormality related to a tube that connects the mouth to the stomach (esophagus).
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Myringotomy: It is a surgical treatment used to relieve the pressure inside the ear due to fluid accumulation.
Conclusion:
It is a rare disorder that is caused due to genetic mutations. Since there are multiple signs and symptoms related to this syndrome, it is relatively difficult to diagnose it. However, if the doctors look for classic signs and symptoms of charge syndrome, such as absent ocular canal, loss of smell, difficulty in swallowing, and loss of vision can be an important factor in diagnosing the disorder. Charge syndrome affects children’s daily routine, and it is necessary to provide them with continuous and prolonged medical and educational support.
