What is Filippi Syndrome?

Filippi Syndrome is an extremely rare genetic pathological condition which is characterized by abnormal facial appearance, skeletal abnormalities with abnormalities of the fingers and toes. Affected individuals may tend to have severe mental retardation as well due to Filippi Syndrome.

Filippi Syndrome children have growth delays, with delays in reaching their developmental milestones. They may also have syndactyly of some of the fingers and toes. Affected children also tend to have an abnormally small head.

This condition follows an autosomal recessive pattern of inheritance meaning that two copies the defective gene one from each parent is required for an individual to develop Filippi Syndrome.

What are the Causes of Filippi Syndrome?

As stated, 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.

In some cases, affected children with Filippi Syndrome have been born out of consanguineous marriages meaning that the father and mother are blood relatives that increase the chances of gene defects which results in an offspring being born with conditions like Filippi Syndrome.

What are the Symptoms of Filippi Syndrome?

The primary presenting feature of Filippi Syndrome is delays exhibited by the child in reaching developmental milestones, significantly low birth weight, and an abnormally short stature when compared to normal children of the same age.

There are also characteristic facial features seen in children with Filippi Syndrome with an abnormally small head. There are also certain musculoskeletal abnormalities with presence of syndactyly of the fingers and toes.

There may also be webbing of the skin between the digits of the fingers which may be partial or complete as a result of Filippi Syndrome. The distinct facial features seen in children with this condition are high forehead, broad nose, and significantly thin upper lip as a result of Filippi Syndrome.

Children with this condition also have mental retardation which may vary from being mild to extremely severe which may cause them to have difficulty in speaking, understanding, and have severely impaired ability to communicate with others as a result of Filippi Syndrome.

How is Filippi Syndrome Diagnosed?

A diagnosis of Filippi Syndrome may be suspected by looking at the characteristic features of the condition and a thorough clinical evaluation of the patient. The physician may then order specialized testing and advanced imaging studies in the form of CT and MRI scans to look at the abnormalities seen with this condition. All the above tests confirm the diagnosis of Filippi Syndrome.

How is Filippi Syndrome Treated?

The treatment of Filippi Syndrome is basically symptomatic and supportive. This may require coordinated effort from a variety of specialties to include pediatricians, orthopedists, speech and language specialists who can formulate a treatment plan for the patient. Surgery may be required to correct some of the craniofacial abnormalities seen with this condition depending on the severity and extent of the condition.

Speech and language therapists are quite useful for children with speech and language impairments due to mental retardation and may help in making them somewhat independent in putting their thoughts across. It should be noted here that early diagnosis with early intervention is essential for a good treatment outcome for children with Filippi Syndrome.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: September 15, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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