Filippi Syndrome
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Filippi Syndrome Overview

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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
Elite in Filippi Syndrome
Referral may be required
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 22 other conditions, according to our data. His clinical expertise encompasses Filippi Syndrome, Syndactyly, Acromicric Dysplasia, and Liebenberg Syndrome.

Experienced in Filippi Syndrome
Experienced in Filippi Syndrome
Referral may be required
Before you request

Indian River Health Services Inc

3555 10th Ct, Suite 200a, 
Vero Beach, FL 
772-563-4673
Languages Spoken:
English
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Accepting New Patients
Offers Telehealth

Jonathan Braue is a Dermatologist practicing medicine in Vero Beach, Florida. Dr. Braue is rated as an Experienced provider by MediFind in the treatment of Filippi Syndrome. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Sunburn, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Braue is board certified in American Board Of Dermatology, 2019. Dr. Braue is currently accepting new patients.

 
 
 
 
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Experienced in Filippi Syndrome
Dr. Alan B. Chelius
Family Medicine
Experienced in Filippi Syndrome
Dr. Alan B. Chelius
Family Medicine
Before you request

Reading Hospital

420 South 5th Avenue, 
West Reading, PA 
484-628-8000
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Alan Chelius is a primary care provider, practicing in Family Medicine in West Reading, Pennsylvania. Dr. Chelius is rated as an Experienced provider by MediFind in the treatment of Filippi Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Infant Hyperglycemia. Dr. Chelius is board certified in American Board Of Family Medicine. Dr. Chelius is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center