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CHARGE syndrome
ICD-10 Codes
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Description
CHARGE syndrome is a rare genetic disorder that affects many parts of the body, including the heart, nerves, genitals, eyes, and ears.
- The condition is characterized by a specific combination of signs and symptoms described by its acronym CHARGE: Coloboma (a hole in one or more parts of the eye), Heart disease, Atresia choanae (blockage of the nasal passages), Restricted growth and development, Genital abnormalities, and Ear anomalies.
- It is an inherited disorder caused by a mutation in the DNA-binding protein-7 CHD7 gene [3].
- The syndrome is extremely complex, involving extensive medical and physical difficulties that differ from child to child [4].
- Children and teenagers with CHARGE syndrome tend to have problems with their senses of sight, hearing, smell, taste, and touch [9].
CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. It is an autosomal dominant genetic disorder typically caused by pathogenic variants in the chromodomain helicase DNA-binding protein-7 (CHD7) gene [6]. The condition can vary widely in severity and impact, but it often requires ongoing medical care and support.
References: [1] - CHARGE syndrome is a genetic condition that affects many parts of your child's body including their heart, nerves, genitals, eyes and ears. [2] - CHARGE syndrome is a rare genetic disorder characterized by a specific combination of signs and symptoms described by its acronym CHARGE: Coloboma of the eye ... [3] - by N Usman · 2023 · Cited by 25 — CHARGE syndrome is an inherited disorder caused by a mutation in the DNA-binding protein-7 CHD7 gene. [4] - It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. [5] - CHARGE syndrome (CS) refers to a pattern of birth defects with a wide range of conditions that can differ from child to child. It is rare and affects one in ... [6] - Mar 25, 2022 — CHARGE syndrome is an autosomal dominant genetic disorder typically caused by pathogenic variants in the chromodomain helicase DNA-binding protein-7 (CHD7) ... [7] - CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/ ... [8] - CHARGE syndrome is a congenital condition (present from birth) that affects many areas of the body. CHARGE stands for coloboma, heart defect, atresia choanae. [9] - Oct 11, 2024 —
Additional Characteristics
- Heart disease
- Coloboma (a hole in one or more parts of the eye)
- Atresia choanae (blockage of the nasal passages)
- Restricted growth and development
- Genital abnormalities
- Ear anomalies
Signs and Symptoms
CHARGE syndrome is a rare genetic disorder that affects multiple parts of the body, including the heart, nerves, genitals, eyes, and ears. The acronym CHARGE stands for:
- Coloboma: A hole in one or more parts of the eye
- Heart defects: Abnormalities in the structure or function of the heart
- Atresia of the choanae: Narrowing or blockage of the passages that connect the back of the nose to the throat
- Retarded growth and mental development: Slow growth and delayed development of motor skills, such as sitting and walking
- Genital anomalies: Abnormalities in the reproductive system
- Ear abnormalities: Deformities or malformations of the ears
Some common signs and symptoms of CHARGE syndrome include:
- Heart defects [3]
- Cleft lip and/or cleft palate [3]
- Esophageal atresia and tracheoesophageal fistula (TEF), H-shaped TEF [3]
- Low muscle tone [5]
- Skeletal abnormalities [5]
- Cleft lip or cleft palate [5]
- Heart defects [5]
- Genital and/or urinary tract anomalies [5]
- Coloboma of the eye [2]
- Choanal atresia [7]
In addition to these physical symptoms, children with CHARGE syndrome may also experience:
- Delayed development of motor skills, such as sitting and walking [4]
- Vision loss or blindness [8]
- Hearing loss or deafness [8]
- Balance problems that delay their development and communication [8]
- Repetitive behavior, such as biting, pacing, or talking [9]
- Sensation-seeking behaviors, such as wanting bright colors or strongly flavored food [9]
It's essential to note that every child with CHARGE syndrome is unique, and the severity and type of symptoms can vary widely. A comprehensive diagnosis by a qualified healthcare professional is necessary for an accurate assessment.
References: [1] - [10] correspond to the search results provided in the context.
Additional Symptoms
- Choanal atresia
- Skeletal abnormalities
- Heart defects
- Low muscle tone
- or cleft palate
- Esophageal atresia and tracheoesophageal fistula (TEF), H-shaped TEF
- or urinary tract anomalies
- Coloboma of the eye
- Delayed development of motor skills, such as sitting and walking
- Vision loss or blindness
- Hearing loss or deafness
- Balance problems that delay their development and communication
- Sensation-seeking behaviors, such as wanting bright colors or strongly flavored food
- repetitive behavior
Diagnostic Tests
Diagnostic Tests for CHARGE Syndrome
CHARGE syndrome is a rare genetic disorder that can be diagnosed through a combination of clinical evaluation and genetic testing.
- Clinical Evaluation: A diagnosis of CHARGE syndrome is typically made by a healthcare provider based on the presence of specific signs and symptoms, which are described by the acronym CHARGE:
- Coloboma of the eye
- Heart defects
- Atresia or stenosis of the choanae (narrowing of the nasal passages)
- Restricted growth and development
- Genital abnormalities
- Ear abnormalities
- Genetic Testing: Genetic testing can confirm a diagnosis of CHARGE syndrome by identifying changes to the CDH7 gene. This involves a DNA test, which looks for mutations in the CDH7 gene that are associated with the condition.
According to search result [8], genetic testing is an important tool for confirming a diagnosis of CHARGE syndrome. Additionally, search result [3] suggests that CHD7 analysis should be performed in patients suspected of having syndromic heart defects, which may include CHARGE syndrome.
In terms of specific diagnostic tests, search result [1] mentions imaging and lab testing, including echocardiogram, kidney ultrasound, inner ear MRI, chromosomal microarray, and CHD7 gene sequencing. These tests can help identify the underlying genetic cause of the condition and confirm a diagnosis of CHARGE syndrome.
References:
- Search result [3]: CHD7 should be included in massive parallel sequencing gene panels for diagnostics in syndromic heart defects
- Search result [8]: Genetic testing can confirm a diagnosis of CHARGE syndrome.
- Search result [1]: Imaging and lab testing, including echocardiogram, kidney ultrasound, inner ear MRI, chromosomal microarray, and CHD7 gene sequencing.
Additional Diagnostic Tests
- echocardiogram
- kidney ultrasound
- inner ear MRI
- chromosomal microarray
- CHD7 gene sequencing
Treatment
Treatment Options for CHARGE Syndrome
CHARGE syndrome, a rare genetic disorder, requires comprehensive treatment to manage its various symptoms and complications. While there is no cure for the condition, medical interventions can significantly improve the quality of life for individuals affected by it.
- Hormone Replacement Therapy: In males with CHARGE syndrome, hormone replacement therapy (HRT) may be prescribed to address hypogonadotropic hypogonadism, a condition characterized by low levels of sex hormones. This treatment aims to promote normal puberty development and correct genital anomalies [4].
- Androgen Therapy: Androgen therapy has been tried in males with CHARGE syndrome to stimulate penile growth [4]. However, the effectiveness of this approach is still being researched.
- Surgery: Surgical interventions are often necessary to repair cleft lip or palate, heart problems, and atresia (a condition where a body part or organ is absent) [5].
- Occupational, Physical, and Speech Therapy: Engaging in occupational, physical, and speech therapy can help individuals with CHARGE syndrome develop essential skills for daily living and improve their overall well-being [5].
- Cochlear Implant and Hearing Aids: For those with hearing impairments, cochlear implants or hearing aids may be recommended to enhance communication abilities [10].
Multidisciplinary Approach
The treatment of CHARGE syndrome often requires a multidisciplinary approach, involving various medical specialists. On average, children with the condition are followed by 17 different medical specialists and undergo more than a dozen surgical procedures [3]. This comprehensive care plan helps manage the complex symptoms and complications associated with CHARGE syndrome.
References
[1] NORD (National Organization for Rare Disorders) - Resources for CHARGE Syndrome [2] Usman et al. (2023) - Testosterone therapy in adolescents with hypogonadotropic hypogonadism [3] Average number of medical specialists and surgical procedures required to manage CHARGE syndrome [4] Androgen therapy for penile growth in males with CHARGE syndrome [5] Surgical interventions and rehabilitative therapies for CHARGE syndrome [6] Treatment focus on managing symptoms to improve quality of life [7] Hormone therapy for genital anomalies and supportive medical therapies [8] Genetics and inheritance of CHARGE syndrome [9] CHD7 disorder, encompassing the phenotypic spectrum of heterozygous CHD7 pathogenic variants [10] Treatment options for CHARGE syndrome, including hormone replacement therapy, surgery, and rehabilitative therapies
Recommended Medications
- Surgery
- Hormone Replacement Therapy
- Androgen Therapy
- Cochlear Implant and Hearing Aids
- Occupational, Physical, and Speech Therapy
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
CHARGE syndrome is a rare genetic disorder characterized by a specific combination of signs and symptoms, described by its acronym CHARGE: Coloboma of the eye, Heart defects, Atresia of the choanae (choanal atresia), Restricted growth and development, Genital hypoplasia, Ear abnormalities, and Deafness.
When considering differential diagnosis for CHARGE syndrome, several other conditions should be taken into account. These include:
- Isolated coloboma: A condition characterized by a hole in one or more parts of the eye, which can be present at birth.
- Isolated choanal atresia: A congenital defect where the nasal passages are blocked, preventing air from entering the lungs.
- Isolated congenital heart defects: Heart problems that are present at birth, which can range from mild to severe.
- Cat-eye syndrome: A rare genetic disorder characterized by a specific combination of eye and ear abnormalities.
- Joubert spectrum: A condition characterized by brain abnormalities, including an underdeveloped cerebellum.
These conditions share some similarities with CHARGE syndrome, but they are distinct entities. A thorough medical evaluation, including genetic testing, is necessary to determine the correct diagnosis.
According to [1], differential diagnosis for CHARGE syndrome should include isolated coloboma, choanal atresia, and congenital heart defects. Additionally, as mentioned in [2], other conditions such as Kallmann syndrome, Kabuki syndrome, and Renal coloboma syndrome should also be considered.
References:
[1] by N Usman · 2023 · Cited by 25 — Differential Diagnosis
[2] Mar 25, 2022 — Isolated congenital heart defects. Joubert spectrum. Kallmann syndrome. Kabuki syndrome. Renal coloboma syndrome.
Note: The above information is based on the search results provided in the context.
Additional Differential Diagnoses
- Wolf-Hirschhorn syndrome
- Warburg micro syndrome
- chromosomal deletion syndrome
- Pitt-Hopkins syndrome
- Brunner Syndrome
- acrocardiofacial syndrome
- mandibulofacial dysostosis, Guion-Almeida type
- CAKUT
- CAKUT1
- Burn-McKeown syndrome
- craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
- uveal coloboma-cleft lip and palate-intellectual disability
- cleft palate, cardiac defects, and intellectual disabillity
- VACTERL association
- DiGeorge syndrome
- Patau syndrome
- velocardiofacial syndrome
- Congenital heart defects
- Isolated coloboma
- Joubert spectrum
- N syndrome
- Kabuki syndrome
- renal coloboma syndrome
- Kallmann syndrome
- choanal atresia
Additional Information
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