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Yunis-Varon syndrome
ICD-10 Codes
Related ICD-10:
Description
Yunis-Varon Syndrome: A Rare Congenital Disorder
Yunis-Varon syndrome, also known as cleidocranial dysplasia, is a rare and severe congenital disorder that affects multiple systems of the body. The condition is characterized by a wide range of abnormalities, including:
- Skeletal defects: Cleidocranial dysplasia, which refers to the underdeveloped or absent collarbones (clavicles) [1][2]
- Digital anomalies: Abnormalities in the fingers and toes [3][5]
- Neurological involvement: Severe neurological symptoms, including developmental delays and intellectual disability [4][5]
- Endocrine abnormalities: Hormonal imbalances and other endocrine system defects [3]
Yunis-Varon syndrome is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [6]. The syndrome is caused by mutations in the FIG4-encoding gene.
The symptoms and severity of Yunis-Varon syndrome can vary widely among affected individuals. However, it is generally considered a severe and life-threatening condition that requires prompt medical attention and ongoing management.
References:
[1] Context result 1 [2] Context result 2 [3] Context result 3 [4] Context result 5 [5] Context result 5 [6] Context result 6
Additional Characteristics
- Skeletal defects
- Digital anomalies
- Neurological involvement
- Endocrine abnormalities
Signs and Symptoms
Overview of Signs and Symptoms
Yunis-Varon syndrome is a rare condition that affects many different parts of the body, with signs and symptoms generally present from birth.
- Skeletal System: Underdeveloped or absent collarbones (clavicles) [1][2], large fontanelles [3][4], characteristic facial features [5][6], hypotonia (reduced muscle tone) [7][8], and/or abnormalities of the fingers and toes [9][10] are common signs.
- Facial Features: Characteristic facial features, such as microcephaly [11], ear abnormalities [12], anteverted nares [13], midfacial hypoplasia [14], tented upper lip, and small jaw [15].
- Neurological Symptoms: Hypotonia and weakness [16], psychomotor delay [17], seizures [18], and structural brain abnormalities [19] may also be present.
- Digital Anomalies: Absent thumbs [20][21], missing bones from the end of fingers, and other digit abnormalities are symptoms of the syndrome.
Additional Symptoms
Other frequent symptoms include:
- Agenesis of the corpus callosum
- Arrhinencephaly
- Bilateral microphthalmos
- Cardiomegaly
- Enlarged cytoplasmic vacuoles in neurons, muscle, and cartilage
These signs and symptoms can vary in severity and may be present from birth. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.
References:
[1] - Context result 1 [2] - Context result 11 [3] - Context result 10 [4] - Context result 13 [5] - Context result 12 [6] - Context result 14 [7] - Context result 8 [8] - Context result 9 [9] - Context result 7 [10] - Context result 15 [11] - Context result 10 [12] - Context result 9 [13] - Context result 18 [14] - Context result 19 [15] - Context result 20 [16] - Context result 8 [17] - Context result 17 [18] - Context result 18 [19] - Context result 19 [20] - Context result 7 [21] - Context result 15
Additional Symptoms
- seizures
- cardiomegaly
- agenesis of the corpus callosum
- microcephaly
- Underdeveloped or absent collarbones (clavicles)
- large fontanelles
- characteristic facial features
- hypotonia (reduced muscle tone)
- abnormalities of the fingers and toes
- ear abnormalities
- anteverted nares
- midfacial hypoplasia
- tenten upper lip
- small jaw
- psychomotor delay
- structural brain abnormalities
- absent thumbs
- missing bones from the end of fingers
- digit abnormalities
- arrhinencephaly
- bilateral microphthalmos
- enlarged cytoplasmic vacuoles in neurons, muscle, and cartilage
- weakness
Diagnostic Tests
Diagnostic Tests for Yunis-Varon Syndrome
Yunis-Varon syndrome, a rare genetic multisystem disorder, requires a comprehensive diagnostic approach to confirm the condition. The following tests may be used to help reach a diagnosis:
- Molecular Genetics Tests: These tests can identify the specific genetic mutations responsible for Yunis-Varon syndrome (Context 2).
- Clinical tests: A total of 32 clinical tests are available in the database for this condition, including molecular genetics tests and other types of evaluations (Context 2).
- Specific genetic testing: Specialists may suggest specific genetic testing to help confirm the diagnosis (Context 5).
In addition to these tests, urine analysis may also be conducted to detect certain metabolites that can indicate Yunis-Varon syndrome. For example, elevated levels of tolui-din, fumarate, and glycin in the urine have been associated with this condition (Context 7).
It's worth noting that a diagnosis of Yunis-Varon syndrome is typically made through a combination of clinical evaluation, laboratory tests, and genetic analysis.
References:
- Context 2: Molecular Genetics Tests
- Context 5: Specific genetic testing
- Context 7: Urine analysis
Additional Diagnostic Tests
- Urine analysis
- Molecular Genetics Tests
- Clinical tests
- Specific genetic testing
Treatment
Treatment Options for Yunis-Varon Syndrome
Yunis-Varon syndrome is a rare genetic disorder that affects multiple systems in the body. While there is no cure for this condition, various treatment options can help manage its symptoms and improve quality of life.
- Early Intervention: Early diagnosis and intervention are critical in managing Yunis-Varon syndrome (1). Special services such as physical therapy, occupational therapy, and speech therapy may be beneficial to children affected by the condition.
- Multidisciplinary Approach: A multidisciplinary team of healthcare professionals, including geneticists, pediatricians, orthopedic surgeons, and neurologists, should be involved in the care of individuals with Yunis-Varon syndrome (2).
- Surgical Interventions: Surgical interventions may be necessary to correct skeletal anomalies, such as absent or hypoplastic clavicles, and digital anomalies (3). Dental treatments may also be required to address oral health issues.
- Medical Management: Medical management of symptoms such as respiratory problems, feeding difficulties, and seizures may involve the use of medications and other interventions (4).
- Genetic Counseling: Genetic counseling can provide families with information about the inheritance pattern of Yunis-Varon syndrome and the risk of passing it to future generations (5).
It's essential to note that each individual with Yunis-Varon syndrome is unique, and their treatment plan should be tailored to their specific needs. A comprehensive approach that addresses physical, emotional, and social aspects of the condition can help improve overall well-being.
References:
[1] - Context 5 [2] - Context 4 [3] - Context 3 [4] - Context 5 [5] - Context 4
Recommended Medications
- Medications
- Surgical interventions
- Genetic 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
Differential Diagnoses for Yunis-Varon Syndrome
Yunis-Varon syndrome (YVS) is a rare genetic disorder with characteristic skeletal and ectodermal abnormalities. When diagnosing YVS, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses to consider:
- Cleidocranial dysplasia: This condition also involves cleidocranial dysplasia, which is a hallmark of YVS. However, cleidocranial dysplasia typically does not involve the severe neurological involvement and digital anomalies characteristic of YVS [6].
- Skeletal abnormalities: Conditions like osteogenesis imperfecta or achondroplasia may present with skeletal abnormalities similar to those found in YVS. However, these conditions do not typically involve the ectodermal tissue defects and severe neurological involvement seen in YVS [2][8].
- Developmental delay and dysmorphism: Conditions like Down syndrome or Prader-Willi syndrome may present with developmental delay and dysmorphism similar to those found in YVS. However, these conditions do not typically involve the characteristic skeletal and ectodermal abnormalities of YVS [9].
Key differences between Yunis-Varon syndrome and other conditions
- Cleidocranial dysplasia: While cleidocranial dysplasia shares some similarities with YVS, it is typically less severe and does not involve the same level of neurological involvement.
- Skeletal abnormalities: Conditions like osteogenesis imperfecta or achondroplasia may present with skeletal abnormalities similar to those found in YVS. However, these conditions do not typically involve the ectodermal tissue defects and severe neurological involvement seen in YVS.
- Developmental delay and dysmorphism: Conditions like Down syndrome or Prader-Willi syndrome may present with developmental delay and dysmorphism similar to those found in YVS. However, these conditions do not typically involve the characteristic skeletal and ectodermal abnormalities of YVS.
References
[2] Context 2 [6] Context 6 [8] Context 8 [9] Context 9
Additional Differential Diagnoses
- cleidocranial dysplasia
- Skeletal abnormalities (osteogenesis imperfecta or achondroplasia)
- Developmental delay and dysmorphism (Down syndrome or Prader-Willi syndrome)
Additional Information
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- oboInOwl#hasDbXref
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- oboInOwl#hasExactSynonym
- cleidocranial dysplasia-micrognathia-absent thumbs syndrome
- IAO_0000115
- A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.
- oboInOwl#inSubset
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- IDO_0000664
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- http://www.w3.org/2002/07/owl#Class
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.