velocardiofacial syndrome

Velocardiofacial syndrome (VCFS) is a complex genetic condition that affects multiple systems in the body. It is characterized by a combination of physical and developmental abnormalities, which can vary from person to person.

Physical Characteristics:

• Cleft palate [3]
• Heart defects [3][11]
• Distinct facial features, including:
  • A small chin (micrognathia) [7]
  • A short nose (brachycephaly) [7]
  • A flat face (midface hypoplasia) [7]
• Palatal anomalies [6][11]

Developmental and Behavioral Characteristics:

• Delayed growth and development, including:
  • Delayed speech [4]
  • Delayed rolling over, sitting up, or other infant milestones [4]
• Learning disabilities [3]
• Increased susceptibility to infections [11]

Other Features:

• Immunodeficiency [11]
• Hypocalcemia (low calcium levels) [11]
• Absence or hypoplasia of the thymus and parathyroid glands [11]

The name "velocardiofacial syndrome" comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face. VCFS is also known as DiGeorge syndrome or 22q11.2 deletion syndrome.

It's worth noting that each individual with VCFS may have a unique combination of characteristics, and not everyone will exhibit all of these features.

Velocardiofacial syndrome (VCFS), also known as 22q11.2 deletion syndrome, is a genetic disorder that affects multiple systems in the body. The signs and symptoms of VCFS can vary widely from person to person, but some common features include:

• Cleft palate: A cleft palate is a birth defect where the roof of the mouth doesn't form properly.
• Heart problems: Approximately 75 percent of people with VCFS will have a heart defect, ranging from minor to major issues. These can include defects in the aorta and the part of the heart that develops into the aorta.
• Developmental delays and learning disabilities: Many individuals with VCFS experience developmental delays or learning disabilities, which can affect their cognitive, social, and emotional development.
• Distinctive facial appearance: People with VCFS often have a distinctive facial appearance, including an underdeveloped chin, heavy-lidded eyes, and ears that are rotated back and low-set.
• Other physical features: Other common physical features associated with VCFS include:
  • Hooded eyelids
  • Flat cheeks
  • A prominent or bulbous nose
  • An underdeveloped lower jaw
  • Low-set ears
  • A thin upper lip with a small mouth
  • A long face with prominent upper jaw

It's essential to note that not everyone with VCFS will exhibit all of these symptoms, and the severity of the condition can vary widely from person to person. [1][2][3][4][5]

References: [1] Context 3: Velocardiofacial Syndrome (VCFS) is a genetic disorder involving a cleft palate, structural heart problems and problems with the thymus and parathyroid glands. [2] Context 6: Hooded eyelids. · Flat cheeks. · A prominent or bulbous nose. · An underdeveloped chin. · Ears with attached lobes. · Cleft lip and palate. [3] Context 7: Symptoms · A long face with prominent upper jaw · An underdeveloped lower jaw · Low set ears · A prominent nose with narrow nasal passages · A thin upper lip with a ... [4] Context 9: Some of the common features associated with this syndrome include cleft palate, abnormalities of the heart, developmental delays and learning disabilities, ... [5] Context 15: Distinctive facial appearance - Including an underdeveloped chin, heavy-lidded eyes and ears that are rotated back and low-set.; Heart defects - Defects usually involve the aorta and the part of the heart from which the aorta develops.In some patients, heart defects may be mild or absent.

Veloccardiofacial syndrome (VCFS), also known as DiGeorge syndrome, is a genetic disorder that affects various parts of the body. Diagnostic tests for VCFS are crucial in confirming the presence of this condition.

Common diagnostic tests:

• Physical examination: A thorough physical exam by a pediatrician or a geneticist can help identify signs and symptoms associated with VCFS.
• Blood tests: Blood tests can be used to measure levels of calcium, magnesium, and other electrolytes in the blood. Abnormal levels may indicate hypoparathyroidism, a condition often seen in individuals with VCFS [1].
• Echocardiogram: An echocardiogram is an ultrasound test that uses sound waves to create images of the heart. It can help identify any cardiac abnormalities associated with VCFS.
• Imaging studies: Imaging studies such as X-rays, CT scans, or MRI scans may be ordered to evaluate the structure and function of various organs, including the thymus, parathyroid glands, and kidneys.

Genetic testing:

• Chromosomal microarray analysis (CMA): CMA is a genetic test that can identify deletions or duplications in the 22q11.2 region of chromosome 22, which is associated with VCFS [2].
• FISH (Fluorescence In Situ Hybridization) testing: FISH testing can also be used to detect deletions or duplications in the 22q11.2 region.

Other diagnostic tests:

• Thyroid function tests: Thyroid function tests may be ordered to evaluate thyroid function, as individuals with VCFS are at risk for hypothyroidism.
• Hearing and speech evaluations: Hearing and speech evaluations can help identify any communication disorders associated with VCFS.

It's essential to note that a diagnosis of VCFS is typically made based on a combination of clinical findings, laboratory results, and genetic testing. A multidisciplinary team of healthcare professionals, including pediatricians, geneticists, cardiologists, and other specialists, may be involved in the diagnostic process.

References:

[1] https://www.ncbi.nlm.nih.gov/pubmed/12398342 (Context result 4)

[2] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449449/ (Context result 5)

Treatment Options for Velocardi Facial Syndrome

Velocardi facial syndrome (VCFS), also known as DiGeorge syndrome, is a genetic disorder that affects various bodily systems. While there is no cure for VCFS, various treatments can help manage its symptoms and complications.

• Antibiotic medications: To treat infections, which are common in individuals with VCFS.
• Calcium supplements: To address low calcium levels (hypocalcemia) caused by hypoparathyroidism.
• Ear tubes or hearing aids: To correct hearing problems associated with the syndrome.
• Psychiatric treatment: Individuals with VCFS may experience mental health issues, such as anxiety and depression. Treatment options include therapy, medication, or a combination of both.

Pharmacological Interventions

Research has explored various medications to alleviate symptoms in individuals with VCFS:

• Aripiprazole: A study found that 15 mg/day of aripiprazole resulted in sustained improvement regarding outbursts of anger, mood stability, and compulsiveness and anxiety [5].
• Clozapine: Treatment with clozapine produced an improvement in psychotic symptoms [3].
• Olanzapine: However, treatment with typical antipsychotic drugs and with one atypical olanzapine produced no improvement.
• Metyrosine (Demser): A clinical trial is investigating the use of metyrosine for treating psychotic disorders in patients with VCFS [8].

Emerging Therapies

Recent developments include:

• Allogeneic processed thymus tissue (Rethymic): The FDA approved this therapy to reconstitute immunity in children with congenital athymia, which may benefit individuals with VCFS [4].
• Landiolol: A new medication approved for atrial fibrillation and atrial flutter in the critical care setting, which might be relevant for managing cardiovascular complications associated with VCFS [10].

Important Considerations

When considering treatment options, it is essential to:

• Understand the purpose and benefits of each medication: Consult with a healthcare professional to discuss the potential effects and risks.
• Be aware of possible side effects: Monitor your child's condition closely and report any concerns or adverse reactions.

References: [1], [2], [3], [4], [5], [8]

Velocardiofacial syndrome, also known as Di George syndrome or chromosome 22q11.2 syndrome, has a complex and varied phenotype, making differential diagnosis essential to accurately diagnose the condition.

Conditions with overlapping features:

• DiGeorge Syndrome: A constellation of immunologic deficiencies secondary to thymus hypoplasia, hypocalcemia secondary to hypoparathyroidism, and congenital cardiac anomalies [9].
• Conotruncal Anomaly Face Syndrome (CTAF): A condition characterized by conotruncal heart defects, facial abnormalities, and other features similar to velocardiofacial syndrome [2].
• Pierre Robin Syndrome: A condition characterized by short stature, overabundant hair, elongated face with mandible anomalies, malformed ears and eyes, and basilar impression [4].

Other conditions to consider:

• CHARGE Syndrome: A condition characterized by thymic aplasia and congenital hypoparathyroidism, which can be seen in velocardiofacial syndrome [14].
• Smith-Lemli-Opitz Syndrome: A condition characterized by polydactyly and cleft palate, which are common findings in velocardiofacial syndrome [15].
• Oculo-Auriculo-Vertebral (Goldenhar) Syndrome (OAVS): A condition characterized by ophthalmic, auricular, and vertebral anomalies, which can be seen in velocardiofacial syndrome [15].

Diagnostic approach:

The diagnosis of velocardiofacial syndrome is primarily based on clinical examination and the presence of characteristic signs and symptoms. A special blood test called FISH (fluorescence in situ hybridization) is then done to look for the deletion in chromosome 22q11.2, which is present in more than 95% of individuals with VCFS [11].

References:

• DiGeorge syndrome was defined as a constellation of immunologic deficiencies secondary to thymus hypoplasia, hypocalcemia secondary to hypoparathyroidism, and congenital cardiac anomalies [9].
• The facial phenotype of velocardiofacial syndrome is characterized by a distinctive facial appearance, which can be used for differential diagnosis [13].
• A comprehensive list of 185 reported findings in patients with velocardiofacial syndrome serves as a guide for evaluating each individual to determine which areas may be affected [13].