What does Filippi syndrome look like?

Filippi syndrome is an extremely rare genetic disorder that manifests itself from birth. Characteristic of Filippi syndrome is that the child has an abnormal face as well as abnormal fingers and toes, and has mild to severe developmental delays.

According to experts, Filippi syndrome is caused by an autosomal recessive genetic pattern. This means that it takes two copies of the faulty gene from both parents, leading to the development of the disease. However, the gene responsible for Filippi syndrome has not yet been identified.
There are many risk factors for Filippi syndrome such as: Inbreeding (marriage within the family line). If the parents are related, the risk of genetic disorders increases, leading to children being born with conditions of Filippi syndrome.

Children with this syndrome often have typical signs and symptoms, such as delayed growth or a significantly low birth weight. Difficulty achieving common developmental milestones can also cause cognitive delays of varying degrees, making it difficult for children to pronounce, understand, and communicate with others.
In addition, other characteristic signs of Filippi syndrome include:
The child's body size is abnormally short. The head is much smaller than that of a normal newborn. Abnormalities of fingers and toes: partial or total adhesions of the fingers. Unusual face: high forehead, wide nose, very thin upper lip border. In addition, children may also experience other signs and symptoms of Filippi syndrome, which are rarely mentioned because of their uncommonness. If the family has any questions or concerns related to this syndrome, please contact your doctor for timely diagnosis and treatment.

3.1. Diagnosis of Filippi Syndrome The diagnosis of Filippi syndrome is made at birth or in infancy based on a comprehensive clinical examination and advanced imaging.
Especially if the patient has a family history of close marriage, the diagnosis is quite clear with the above-mentioned malformed symptoms or it can also be confirmed by early pregnancy screening in the woman. female. Genetic counseling will benefit parents of children affected by Filippi syndrome.
3.2. Treatment of Filippi syndrome Because it is a rare genetic disorder, there is currently no cure for Filippi syndrome. The goal of treatment is mainly to control symptoms, so it will depend on each patient's condition to provide the most appropriate treatment.
The treatment process may require the coordination of medical professionals from different specialties, thereby developing a comprehensive and systematic treatment plan for the patient.

Combined specialties may include: pediatricians, doctors who specialize in disorders of the joints, muscles, and related tissues, other health care professionals in special education, physics therapy, speech therapy, or medical or social services. Early intervention plays an important role in helping affected children catch up to common developmental milestones early.
In some cases, treatment may include surgical repair of some of the bones or abnormalities of the fingers, toes, face, etc. potentially related to this syndrome. Surgical surgery is also considered depending on the severity of the anatomical abnormalities. Some other symptoms of Filippi syndrome are also evaluated and treated to improve the condition early and avoid the most dangerous progression of the disease.
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