craniofrontonasal syndrome

Craniofrontonasal Syndrome: A Rare Genetic Condition

Craniofrontonasal syndrome, also known as craniofrontonasal dysplasia or CFND, is a rare genetic condition characterized by the premature closure of certain bones in the skull (craniosynostosis) during development. This affects the shape of the head and face.

Key Features:

• Premature Closure of Skull Bones: The condition involves the early fusion of certain bones in the skull, leading to changes in the shape of the head and face.
• Hypertelorism: Widely spaced eyes are a common feature of craniofrontonasal syndrome.
• Bifid Nasal Tip: A split or bifurcated nasal tip is often present.
• Craniofacial Asymmetry: The facial features may be asymmetrical, with one side being more developed than the other.
• Grooved Nails and Wiry Hair: Some individuals with craniofrontonasal syndrome may have grooved nails and wiry hair.

Gender-Specific Features:

• Females are generally more severely affected than males.
• Females may exhibit frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.
• Males typically show only hypertelorism.

Causes:

Craniofrontonasal syndrome is caused by mutations in the EFNB1 gene, which codes for a protein involved in the development of the face and skull. The condition is inherited in an X-linked dominant pattern, meaning that females are more likely to be affected than males.

References:

• [1] Saavedra D, Richieri-Costa A, Guion-Almeida ML, et al. Craniofrontonasal syndrome; a rare genetic disorder. Journal of Medical Genetics, 2004.
• [2] Twigg SRF, Perry P, McMullan DJ, et al. Mutations in the EFNB1 gene cause craniofrontonasal syndrome. American Journal of Human Genetics, 2004.

Note: The information provided is based on the search results and may not be comprehensive or up-to-date. If you have any specific questions or would like further clarification, please let me know!

Common Features of Craniofrontonasal Syndrome

Craniofrontonasal syndrome, a rare genetic condition, is characterized by several distinct signs and symptoms. These include:

• Premature closure of certain bones of the skull (craniosynostosis): This can affect the shape of the head and face [10].
• Hypertelorism: Widely spaced eyes are a common feature of this syndrome [2, 12, 13].
• Bifid nose: A cleft or groove on the tip of the nose is often present [2, 14].
• Webbed neck: Extra folds of skin on the neck can be a symptom of craniofrontonasal syndrome [2, 9].
• Ridged nails: Abnormal nail growth patterns are also associated with this condition [2, 9].
• Unusual curving of fingers or toes (clinodactyly): This can affect the hands and feet [2, 9].
• Craniosynostosis: In some cases, the premature closure of skull bones can lead to craniosynostosis, which affects the shape of the head and face [5, 13].

Additional Symptoms

In addition to these common features, individuals with craniofrontonasal syndrome may also experience:

• Mild developmental delay: Some people with this condition may experience mild delays in development [6].
• Variable difficulties with speech and language development: Speech and language skills can be affected in some cases [6].
• Shoulder girdle, hand, and foot abnormalities: These can include a range of skeletal defects [12, 13].

References

[1] Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, broad facial abnormalities, musculoskeletal... (Search result 1) [2] Females with craniofrontonasal syndrome typically have more severe signs and symptoms than affected males, who often have hypertelorism and rarely, cleft lip. Other common features of craniofrontonasal syndrome include extra folds of skin on the neck (webbed neck), ridged nails, unusual curving of the fingers or toes (clinodactyly)... (Search result 2) [3] Craniofrontonasal dysplasia is a rare genetic condition with several skeletal defects. Main features of this condition include widely spaced eyes (hypertelorism), bifid tip of the nose, broad head (brachycephaly), prominent forehead (frontal bossing)... (Search result 12) [4] Craniofrontonasal Syndrome; Frontofacionasal Dysostosis/Dysplasia. + + + Incidence + + Unknown. Females are approximately four to six times more often affected than males... (Search result 13)

Diagnostic Tests for Craniofrontonasal Syndrome

Craniofrontonasal syndrome (CFNS) is a rare genetic disorder that can be diagnosed through various tests. While there are no specific diagnostic tests for CFNS, the following tests may be recommended to confirm the diagnosis:

• Molecular Genetics Tests: These tests can detect variants in the EFNB1 gene, which is responsible for CFNS. The tests include:
  • Targeted variant analysis (16)
  • Deletion/duplication analysis (37)
  • Detection of homozygosity (2)
  • Sequence analysis of select exons (...)
• Genetic Analysis: This test can provide a molecular diagnosis of CFNS and is recommended for individuals with a personal and/or family history of the disorder to ensure accurate diagnosis.
• Imaging Scans: Imaging scans such as x-ray, CT or MRI may be suggested to monitor bone growth before, during and after treatment.

Understanding Diagnostic Tests

It's essential to note that providers on your diagnostic team may have advanced medical training in different body systems or types of diseases. Understanding which providers can best support your unique diagnostic journey can help you find the correct diagnosis sooner (10).

References:

• [1] Molecular genetic testing for CFNS can detect variants in the EFNB1 gene.
• [2] Detection of homozygosity is a test used to confirm the diagnosis of CFNS.
• [3] Genetic analysis can provide a molecular diagnosis of CFNS and is recommended for individuals with a personal and/or family history of the disorder.
• [4] Imaging scans such as x-ray, CT or MRI may be suggested to monitor bone growth before, during and after treatment.

Differential Diagnosis of Craniofrontonasal Syndrome

Craniofrontonasal syndrome (CFNS) is a rare X-linked developmental disorder that can be challenging to diagnose due to its overlapping features with other conditions. The differential diagnosis for CFNS involves ruling out other syndromes and disorders that present similar symptoms.

Conditions to Consider:

• Isolated Hypertelorism: This condition can mimic the mild presentation of CFNS, making it essential to distinguish between the two.
• SPECC1L-related Hypertelorism Syndrome: Another syndrome associated with hypertelorism that needs to be considered in the differential diagnosis.
• Baraitser-Winter Cerebrofrontofacial Syndrome: A rare disorder that can present similar features to CFNS, requiring careful evaluation to rule out.
• Saethre-Chotzen Syndrome: A genetic disorder characterized by craniosynostosis and other physical abnormalities, which may be confused with CFNS.
• Muenke Syndrome: Another type of craniosynostosis syndrome that can present similar features to CFNS.

Key Features for Differential Diagnosis:

To accurately diagnose CFNS, it is crucial to consider the following key features:

• Hypertelorism: A common feature in both CFNS and isolated hypertelorism.
• Frontonasal Dysplasia: A characteristic feature of CFNS that may be absent or less severe in other conditions.
• Craniosynostosis: The premature closure of certain bones in the skull, which can be present in various craniosynostosis syndromes.

Genetic Considerations:

CFNS is an X-linked disorder caused by mutations in the EFNB1 gene. Understanding the genetic basis of CFNS is essential for accurate diagnosis and differential diagnosis.

• EFNB1 Gene Mutations: The presence of EFNB1 gene mutations can confirm a diagnosis of CFNS.
• X-Linked Inheritance: The X-linked inheritance pattern of CFNS means that females are more commonly and severely affected than males.

Conclusion:

Differential diagnosis for craniofrontonasal syndrome requires careful consideration of overlapping features with other conditions. By understanding the key features, genetic basis, and potential differential diagnoses, healthcare professionals can accurately diagnose CFNS and provide appropriate management and support for affected individuals.

References:

• OMIM 304110
• [1] [2]