Filippi Syndrome



What is Filippi syndrome?

Filippi syndrome is an extremely rare genetic disorder that may be apparent at birth (congenital). The disorder is characterized by an unusual facial appearance, abnormalities of the fingers and toes, and mild to severe mental retardation.

How common is Filippi syndrome?

Filippi syndrome is extremely rare. So far, less than 25 cases have been reported in the medical literature. Please discuss with your doctor for further information.


What are the symptoms of Filippi syndrome?

The primary presenting features of Filippi Syndrome include:

  • Delays in reaching developmental milestones
  • Significantly low birth weight
  • Abnormally short stature
  • Abnormally small head
  • Certain musculoskeletal abnormalities with presence of syndactyly of the fingers and toes
  • Partial or complete webbing of the skin between the digits of the fingers
  • Distinct facial features seen in children: high forehead, broad nose, and significantly thin upper lip
  • Mental retardation varies from being mild to extremely severe, resulting in difficulty speaking, understanding, communicating with others

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Filippi syndrome?

Filippi syndrome follows an autosomal recessive pattern of inheritance meaning that two copies of the faulty gene one from each parent is required for the development of this condition. The exact gene responsible for causing Filippi Syndrome has not yet been determined.

Risk factors

What increases my risk for Filippi syndrome?

There are many risk factors for Filippi syndrome, such as:

Consanguineous marriages. If the father and mother are blood relatives, there are increased chances of gene defects which results in an offspring being born with conditions like Filippi Syndrome.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Filippi syndrome diagnosed?

The diagnosis of Filippi syndrome may be made at birth or during early infancy based upon a thorough clinical evaluation and characteristic physical findings. Specialized testing, such as certain advanced imaging techniques, may also be conducted to detect or characterize particular findings that may be associated with the disorder.

How is Filippi syndrome treated?

The treatment of Filippi syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected child’s treatment. These professionals may include pediatricians; physicians who specialize in disorders of the skeleton, joints, muscles, and related tissues (orthopedists); and/or other health care professionals.

In some affected individuals, treatment may include surgical repair of certain skeletal or other abnormalities potentially associated with the disorder. The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors.

Early intervention may be important in ensuring that affected children reach their potential. Special services that may be beneficial include special education, physical therapy, speech therapy, or other medical, social, and/or vocational services. Genetic counseling will also be of benefit for individuals with Filippi syndrome and their families. Other treatment is symptomatic and supportive.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Filippi syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Review Date: February 2, 2018 | Last Modified: February 11, 2018

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