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IMAGe syndrome
ICD-10 Codes
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Description
IMAGe syndrome, also known as CDKN1C-related disorder, is a rare genetic condition characterized by a combination of physical and developmental features.
Key Features:
- Intrauterine growth restriction (IUGR): Babies with IMAGe syndrome often experience slow growth in the womb.
- Metaphyseal dysplasia: This refers to abnormal development of the metaphyses, which are the wide portions of long bones.
- Adrenal hypoplasia congenita: The adrenal glands may be underdeveloped or absent.
- Genital anomalies: Individuals with IMAGe syndrome often have abnormalities in their genital area.
Additional Features:
- High levels of calcium in the blood (hypercalcemia) or urine (hypercalcuria)
- Short stature
- Developmental delays
IMAGe syndrome is caused by mutations in the CDKN1C gene, which plays a crucial role in regulating growth before birth. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the gene for their child to be affected.
It's essential to note that IMAGe syndrome is a rare and complex disorder, and its symptoms can vary widely among individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for accurate diagnosis and management.
References:
- [1] - Intrauterine growth restriction (IUGR) is a key feature of IMAGe syndrome.
- [3] - Metaphyseal dysplasia is another characteristic of this condition.
- [6] - Mutations in the CDKN1C gene cause IMAGe syndrome.
- [7] - Adrenal hypoplasia congenita and genital anomalies are also associated with this disorder.
Additional Characteristics
- Short stature
- Metaphyseal dysplasia
- Developmental delays
- Intrauterine growth restriction (IUGR)
- Adrenal hypoplasia congenita
- Genital anomalies
- High levels of calcium in the blood (hypercalcemia) or urine (hypercalcuria)
Signs and Symptoms
IMAGe syndrome, also known as IMAGe syndrome complex, is a rare genetic disorder that affects multiple systems in the body. The signs and symptoms of IMAGe syndrome can vary from person to person, but they often include:
- Intrauterine growth restriction (IUGR): Affected individuals may experience slow growth before birth, leading to low birth weight [6].
- Metaphyseal dysplasia: This condition affects the metaphyses of long bones, causing them to appear short and narrow [2].
- Adrenal hypoplasia congenita (AHC): A rare genetic disorder that affects the adrenal glands, leading to adrenal insufficiency [1][8].
- Dysmorphic features: Affected individuals may have distinctive facial features, such as a prominent forehead, low-set ears, and a short nose with a flat nasal bridge [3][7].
In addition to these specific symptoms, IMAGe syndrome can also cause a range of other problems, including:
- Vomiting and difficulty feeding: Infants with IMAGe syndrome may experience vomiting and have trouble feeding due to adrenal insufficiency [1].
- Dehydration and hypoglycemia: Affected individuals may develop dehydration and extremely low blood sugar (hypoglycemia) shortly after birth [8].
- Skeletal abnormalities: Metaphyseal dysplasia can cause short limbs, bowed legs, and other skeletal deformities [2].
It's worth noting that the signs and symptoms of IMAGe syndrome can vary widely from person to person, and not everyone with the condition will exhibit all of these features. A diagnosis of IMAGe syndrome is typically made through a combination of clinical evaluation, genetic testing, and imaging studies.
References: [1] Apr 1, 2013 — The signs of adrenal insufficiency begin shortly after birth and include vomiting, difficulty with feeding, dehydration, extremely low blood ... [2] IMAGe syndrome is characterized by the association of intrauterine growth retardation, metaphyseal dysplasia (and short limbs), adrenal hypoplasia congenita, ... [3] Apr 1, 2013 — Some affected individuals have distinctive facial features, such as a prominent forehead, low-set ears, and a short nose with a flat nasal ... [6] ... IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body. Most affected individuals grow slowly before birth (intrauterine growth ... [7] by M Bolomiti · 2021 · Cited by 5 — Whenever a patient presents with dysmorphic features, small and low-set ears, prominent forehead, micrognathia and abnormal values of ACTH and cortisol, IMAGe ... [8] The signs of adrenal insufficiency begin shortly after birth and include vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia) ...
Additional Symptoms
- Metaphyseal dysplasia
- Skeletal abnormalities
- Dysmorphic features
- Intrauterine growth restriction (IUGR)
- Adrenal hypoplasia congenita (AHC)
- Vomiting and difficulty feeding
- dehydration
Diagnostic Tests
IMAGe syndrome, also known as Beckwith-Wiedemann Syndrome variant, is a rare genetic disorder that can be diagnosed through various diagnostic tests.
- Genetic testing: The most common diagnostic test for IMAGe syndrome is genetic testing, specifically sequencing of the CDKN1C gene. This test can identify mutations in the CDKN1C gene, which are associated with the condition [8].
- Exome sequencing: Exome sequencing is another type of genetic testing that can be used to diagnose IMAGe syndrome. This test involves sequencing all the protein-coding regions of the genome (exons) and can identify mutations in the CDKN1C gene or other genes associated with the condition [7].
- Targeted variant analysis: Targeted variant analysis is a type of genetic testing that focuses on specific genes or variants known to be associated with IMAGe syndrome. This test can be used to confirm a diagnosis or rule out the condition in individuals with suspected IMAGe syndrome [1].
These diagnostic tests are typically performed on DNA samples, which can be obtained from blood, saliva, or other tissues.
It's worth noting that prenatal or early postnatal diagnosis of IMAGe syndrome is possible through genetic testing, and sensitivity of these tests may vary depending on the specific test used [4].
Additional Diagnostic Tests
- Genetic testing
- Targeted variant analysis
- Exome sequencing
Treatment
IMAGe syndrome, also known as Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies, is a rare genetic disorder. While there is no specific treatment for the condition, various therapies can help manage its symptoms.
Growth Hormone Therapy Treatment may include growth hormone therapy to address intrauterine growth restriction [4]. This therapy aims to promote normal growth and development in affected individuals.
Hypoglycemia Management Individuals with IMAGe syndrome may experience hypoglycemia, which can be managed through dietary adjustments and, if necessary, medication [5].
Psychological Counseling Psychological counseling can be used as needed to address psychosocial issues associated with the condition [5]. This support is essential for individuals and their families to cope with the emotional impact of IMAGe syndrome.
Other Therapies While not specifically mentioned in the context, other therapies such as physical therapy may also be beneficial in addressing any developmental delays or physical disabilities associated with the condition.
It's essential to consult a healthcare professional for personalized advice on managing IMAGe syndrome. They can provide guidance on the most effective treatment plan based on individual needs and circumstances.
References: [4] - Treatment may include growth hormone therapy. [5] - Hypoglycemia should be managed through dietary adjustments and, if necessary, medication; Psychological counseling can be used as needed to address psychosocial issues.
Recommended Medications
- Growth Hormone Therapy
- Hypoglycemia Management
- Psychological Counseling
💊 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
IMAGe syndrome, also known as Beckwith-Wiedemann Syndrome-like disorder, is a rare genetic condition characterized by intrauterine growth restriction (IUGR), metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary abnormalities in males. When considering the differential diagnosis of IMAGe syndrome, several conditions come to mind.
- Congenital Adrenal Hypoplasia: This condition is a rare genetic disorder that affects the development of the adrenal glands, leading to hormonal imbalances. It can be caused by mutations in the NR5A1 gene and is often associated with IMAGe syndrome [9].
- X-linked Adrenal Hypoplasia Congenita: This is another rare genetic condition that affects the development of the adrenal glands, similar to congenital adrenal hypoplasia. However, it is caused by mutations in the DAX1 gene and is inherited in an X-linked recessive pattern [9].
- Beckwith-Wiedemann Syndrome (BWS): This is a rare genetic disorder that affects growth and development, characterized by macrosomia, macroglossia, and other physical abnormalities. While BWS shares some similarities with IMAGe syndrome, it has distinct clinical features.
- Pituitary Gland Abnormalities: Certain conditions affecting the pituitary gland, such as hypopituitarism or hyperpituitarism, can also be considered in the differential diagnosis of IMAGe syndrome.
It's essential to note that a comprehensive diagnostic evaluation is necessary to accurately diagnose IMAGe syndrome and rule out other potential causes. This may involve genetic testing, imaging studies, and clinical assessments by specialists in genetics, endocrinology, and urology [7].
References:
[7] by CC Pedreira · 2004 · Cited by 46 — IMAGe is a complex syndrome involving dysmorphic features; disorders of growth, gonadal, and adrenal function; and skeletal abnormalities. [9] by YM Kim · 2018 · Cited by 24 — The differential diagnosis of congenital adrenal hypoplasia includes X-linked adrenal hypoplasia congenita, NR5A1 mutation, Xp21 contiguous ...
Additional Differential Diagnoses
- Congenital Adrenal Hypoplasia
- Pituitary Gland Abnormalities
- X-linked adrenal hypoplasia congenita
- Beckwith-Wiedemann syndrome
Additional Information
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