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cardiofaciocutaneous syndrome 1

Description

Cardiofaciocutaneous Syndrome: A Rare Genetic Disorder

Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder that affects multiple parts of the body, particularly the heart, face, skin, and hair. People with this condition also experience developmental delay and intellectual disability, usually ranging from moderate to severe [10].

Common Features:

  • Congenital heart disease
  • Characteristic facial features (coarse facial appearance, large forehead, low-set ears, ptosis, downslanting of eyes)
  • Skin abnormalities
  • Unusually sparse, brittle, curly hair
  • Intellectual disability and developmental delay

Other Symptoms:

  • Failure to thrive
  • Hypotonia (low muscle tone)
  • Eye abnormalities
  • Gastrointestinal dysfunction
  • Seizures
  • Varying degrees of neurocognitive delay [11]

Age of Diagnosis:

  • Most cases are diagnosed during infancy, when physical signs of the disorder become apparent.
  • Some cases may be discovered before birth, during prenatal ultrasound.

References: [1] - [15]

Additional Characteristics

  • Seizures
  • Eye abnormalities
  • Congenital heart disease
  • Hypotonia (low muscle tone)
  • Failure to thrive
  • Skin abnormalities
  • Gastrointestinal dysfunction
  • Intellectual disability and developmental delay
  • Characteristic facial features (coarse facial appearance, large forehead, low-set ears, ptosis, downslanting of eyes)
  • Unusually sparse, brittle, curly hair
  • Varying degrees of neurocognitive delay

Signs and Symptoms

Cardiofaciocutaneous Syndrome Signs and Symptoms

Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder characterized by distinct physical features, cardiac abnormalities, and cutaneous manifestations. The signs and symptoms of CFC syndrome can vary among individuals, but some common characteristics include:

  • Physical Features:
    • High forehead [1]
    • Long face [5]
    • Full lips [5]
    • Short nose [5]
    • Low-set ears [5]
    • Wide-set eyes [8][9]
    • Drooping upper eyelids [5]
    • Very sparse or missing eyebrows [8][9]
  • Cardiac Abnormalities:
    • Pulmonic stenosis and other valve dysplasias [10]
    • Septal defects [10]
    • Hypertrophic cardiomyopathy [10]
    • Rhythm disturbances [10]
  • Cutaneous Manifestations:
    • Dry, rough skin [6]
    • Dark-colored moles (nevi) [6]
    • Wrinkled skin [6]
    • Xerosis [10]
    • Hyperkeratosis [10]
    • Ichthyosis [10]
    • Keratosis pilaris [10]
    • Ulerythema ophryogenes [10]
    • Eczema [10]
    • Pigmented moles [10]
    • Hemangiomas [10]

Additional Symptoms:

  • Feeding difficulties, leading to failure to thrive, gastroesophageal reflux (GER), vomiting, and constipation often appear in infancy but improve in childhood [7].
  • Delayed development of gross motor skills and speech, especially in the early years of the child [11].

It's essential to note that CFC syndrome can be difficult to diagnose due to its overlapping symptoms with other genetic conditions like Costello syndrome and Noonan syndrome. A prenatal ultrasound scan may show the first signs that a baby has CFC syndrome, including a body and head that are larger than average, and extra amniotic fluid in the womb [1][12][13][14][15].

Diagnostic Tests

Diagnostic Tests for Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous (CFC) syndrome is a genetic disorder that can be challenging to diagnose due to its overlapping features with other RASopathies, such as Noonan syndrome and Costello syndrome. However, various diagnostic tests can help establish the diagnosis.

Genetic Testing

Genetic testing is a crucial step in diagnosing CFC syndrome. The majority of patients have a heterozygous pathogenic variant in one of the four genes: BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), or KRAS [7]. Molecular genetic testing approaches can include:

  • Serial single-gene testing
  • Use of a multigene panel
  • Comprehensive genomic testing

The recommended strategy for CFC syndrome testing involves Tier 1 sequencing of exons 6 and 11 through 16 of BRAF, followed by Tier 2 sequencing of the remaining exons [8].

Other Diagnostic Tests

While genetic testing is essential, other diagnostic tests can also be helpful in establishing a diagnosis. These may include:

  • Detailed family history
  • Medical history
  • Physical examination

A healthcare provider can help coordinate these tests and provide specialist referrals as needed.

References:

[7] CFC syndrome is often caused by de novo mutations in one of four genes, including BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), and KRAS. [8] The recommended strategy for CFC syndrome testing involves Tier 1 sequencing of exons 6 and 11 through 16 of BRAF.

Additional Diagnostic Tests

  • Genetic Testing
  • Physical examination
  • Medical history
  • Molecular genetic testing approaches: Serial single-gene testing, Use of a multigene panel, Comprehensive genomic testing
  • Detailed family history

Treatment

Treatment Options for Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous (CFC) syndrome, a rare genetic disorder, requires a comprehensive treatment approach to manage its various symptoms and complications. While there is no cure for CFC syndrome, several drug treatments can help alleviate its effects.

  • MEK inhibitors: Genetic pathway inhibitors, including MEK inhibitors, have been recently explored as potential treatments for CFC syndrome [6]. These medications target the RAS-MAPK pathway, which is affected in this condition.
  • Growth hormone therapy: Growth hormone may be prescribed to address slow growth and developmental delays associated with CFC syndrome [9].
  • Medications for heart defects: Treatment plans often include medicines, surgery, or both for heart problems such as pulmonic stenosis and other valve dysplasias [9].
  • Anticonvulsants: In individuals with evidence of peripheral neuropathy, anticonvulsants like oxcarbazepine may be used to manage seizures [8].

Important Considerations

It is essential to note that each treatment plan for CFC syndrome is tailored to the individual's specific needs and symptoms. A multidisciplinary team of healthcare professionals should work together to develop a comprehensive care plan.

Citations: [6] Scorrano, G. (2023). Treatment. [5] [8] Kenney-Jung, D. L. (2024). Oxcarbazepine was rated as the most effective in decreasing seizures and had a low frequency of patients discontinuing treatment due to adverse effects. [9] How Is Cardiofaciocutaneous (CFC) Syndrome Treated? · medicines, surgery, or both for heart and digestive problems · growth hormone if slow growth is due to a low level of growth hormone.

Recommended Medications

  • MEK inhibitors
  • Anticonvulsants
  • Growth hormone therapy
  • Medications for heart defects

💊 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 Diagnosis of Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous (CFC) syndrome, a rare genetic disorder, can be challenging to diagnose due to its overlapping clinical features with other RASopathies. The differential diagnosis for CFC syndrome includes:

  • Noonan Syndrome: A common genetic disorder that occurs in approximately 1 in 2500 individuals, Noonan syndrome shares many clinical features with CFC syndrome, including cardiac abnormalities and distinctive craniofacial appearance [3].
  • Costello Syndrome: Another RASopathy, Costello syndrome is characterized by similar clinical features to CFC syndrome, such as cardiac defects, facial dysmorphia, and ectodermal anomalies [5].
  • Legius Syndrome: A genetic disorder that can be distinguished from CFC syndrome by its distinct clinical features, including multiple lentigines and a characteristic facial appearance [11].

Key Features for Differential Diagnosis

To differentiate CFC syndrome from these conditions, the following key features should be considered:

  • Cardiac Abnormalities: While cardiac defects are common in all three conditions, the specific type and severity of abnormalities can help distinguish between them.
  • Craniofacial Appearance: The distinctive facial features of each condition,

Additional Information

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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.