Filippi Syndrome
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Filippi Syndrome Overview

Definition
Alternate Names
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Learn About Filippi Syndrome

What is the definition of Filippi Syndrome?

Filippi syndrome is present at birth and impacts the development of the head, face, and limbs. Signs and symptoms include a small head (microcephaly), webbing of the fingers and toes (syndactyly), intellectual disability, growth delay, and distinctive facial features (high and broad nasal bridge, thin nostrils, small chin or micrognathia, and a high frontal hairline). Other features may can include vision problems, extra fingers and toes, and seizures. Because Filippi syndrome is very rare, it is not known how this condition changes over time. Filippi syndrome is caused by a genetic variant in the CKAP2L gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, clinical exam, and may be confirmed by the results of genetic testing.

What are the alternative names for Filippi Syndrome?

Filippi syndrome
Syndactyly type I with microcephaly and mental retardation
Type 1 syndactyly-microcephaly-intellectual disability syndrome
Unusual facial appearance, microcephaly, growth and mental retardation and syndactyly

Who are the top Filippi Syndrome Local Doctors?

Elite in Filippi Syndrome

Francesco Brancati

Elite in Filippi Syndrome

Francesco Brancati

Rome, IT

Francesco Brancati practices practicing medicine in Rome, Italy. Mr. Brancati is rated as an Elite expert by MediFind in the treatment of Filippi Syndrome. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Filippi Syndrome, Syndactyly, Acromicric Dysplasia, and Liebenberg Syndrome.

Advanced in Filippi Syndrome

Dr. Alvaro H. Russi

Pediatrics

Advanced in Filippi Syndrome

Dr. Alvaro H. Russi

Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd,

Johnson City, TN

423-439-7320

Languages Spoken:

English

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Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Filippi Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

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Experienced in Filippi Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Experienced in Filippi Syndrome

Dr. Donald J. Weaver

Pediatric Nephrology

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C,

Charlotte, NC

704-381-8800

Languages Spoken:

English

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Accepting New Patients

Offers Telehealth

Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Filippi Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.