Summary about Disease
Fraser syndrome (also known as cryptophthalmos syndrome) is a rare, autosomal recessive genetic disorder characterized by a range of physical malformations. The hallmark feature is cryptophthalmos, where the eyelids are fused over the eyes, either partially or completely. Other common features include syndactyly (fused fingers or toes), abnormalities of the respiratory tract, genitourinary anomalies, and craniofacial dysmorphism. The severity of Fraser syndrome can vary widely, and affected individuals often require extensive medical management.
Symptoms
Symptoms of Fraser syndrome can vary significantly among affected individuals, but generally include:
Cryptophthalmos: Fusion of eyelids over the eyes, either partially or completely.
Syndactyly: Fusion of fingers and/or toes.
Abnormalities of the nose: Including a broad, flat nasal bridge, or a beaked nose.
Laryngeal and tracheal abnormalities: Leading to breathing difficulties.
Genitourinary anomalies: Such as renal agenesis (absence of one or both kidneys), ambiguous genitalia, or absent or malformed reproductive organs.
Cleft lip and/or palate: A split in the upper lip and/or roof of the mouth.
Ear abnormalities: Malformed ears or absent ear canals leading to hearing loss.
Skeletal anomalies: Such as short stature or scoliosis.
Intellectual disability: Can occur in some cases, but intelligence may be normal in others.
Causes
Fraser syndrome is caused by mutations in genes involved in the development of the skin and other tissues. The genes most commonly associated with Fraser syndrome are:
_FRAS1_: Encodes a protein involved in the formation of the extracellular matrix.
_FREM2_: Encodes a protein that interacts with FRAS1.
_GRIP1_: Encodes a protein that plays a role in the transport of FRAS1 and FREM2. The disorder is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
There is no specific medicine to cure Fraser Syndrome. Treatment focuses on managing the specific symptoms and malformations present in each individual. This may involve:
Surgery: To correct cryptophthalmos, syndactyly, cleft lip/palate, and other physical abnormalities.
Respiratory support: To address breathing difficulties, which may include tracheostomy.
Hormone therapy: To manage hormonal imbalances associated with genitourinary anomalies.
Antibiotics: to treat infections, especially in the urinary tract or respiratory system.
Pain Management: Medications to alleviate pain associated with surgeries or other medical conditions.
Is Communicable
No, Fraser syndrome is not communicable. It is a genetic disorder caused by gene mutations and cannot be spread from person to person.
Precautions
Since Fraser syndrome is a genetic disorder, there are no specific precautions to prevent its occurrence. Genetic counseling is recommended for families with a history of Fraser syndrome who are planning to have children. This counseling can help assess the risk of having a child with the condition and discuss available options such as preimplantation genetic diagnosis (PGD) or prenatal testing. Management of the condition after birth focuses on managing symptoms and preventing complications.
How long does an outbreak last?
Fraser syndrome is not an outbreak. It is a genetic condition present from birth. The symptoms and health concerns associated with Fraser syndrome are chronic and lifelong, requiring ongoing medical management.
How is it diagnosed?
Fraser syndrome is typically diagnosed based on clinical findings. The presence of cryptophthalmos, along with other characteristic features such as syndactyly and genitourinary anomalies, raises suspicion for the diagnosis. Diagnostic methods include:
Physical Examination: Careful assessment of physical features.
Imaging Studies: Ultrasound, X-rays, CT scans, or MRI to evaluate internal organ abnormalities.
Genetic Testing: Molecular genetic testing to identify mutations in the _FRAS1_, _FREM2_, or _GRIP1_ genes confirms the diagnosis. Prenatal genetic testing is also possible if there is a family history.
Renal Ultrasound: To check for kidney issues.
Timeline of Symptoms
Symptoms of Fraser syndrome are present at birth. There is no specific timeline of symptom progression in the same way as an infectious disease. The features and severity are congenital (present from birth), and some complications may develop or become apparent over time as the child grows. Surgeries and management strategies are implemented as required to manage specific symptoms.
Important Considerations
Multidisciplinary Care: Management of Fraser syndrome requires a team of specialists, including geneticists, ophthalmologists, surgeons, pulmonologists, nephrologists, and other healthcare professionals.
Airway Management: Respiratory difficulties are a significant concern, and early intervention may be necessary.
Renal Function: Regular monitoring of kidney function is crucial.
Psychosocial Support: Families affected by Fraser syndrome may benefit from genetic counseling and support groups to cope with the challenges of the condition.
Individualized Treatment: Treatment plans should be tailored to each individual's specific needs and the severity of their symptoms.
Early Intervention: Early intervention is important to maximize the child's developmental potential.