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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
Elite in Filippi Syndrome
Rome, IT 

Francesco Brancati practices in Rome, Italy. Mr. Brancati is rated as an Elite expert by MediFind in the treatment of Filippi Syndrome. His top areas of expertise are Filippi Syndrome, Syndactyly, Acromicric Dysplasia, and Liebenberg Syndrome.

Advanced in Filippi Syndrome
Hematology Oncology | Hematology | Oncology
Advanced in Filippi Syndrome
Hematology Oncology | Hematology | Oncology

Wk Hematology Oncology Associates

2600 Kings Hwy, Suite 340, 
Shreveport, LA 
Languages Spoken:
English
Accepting New Patients

Joyce Feagin is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Feagin is rated as an Advanced provider by MediFind in the treatment of Filippi Syndrome. Her top areas of expertise are Inflammatory Breast Cancer, Colorectal Cancer, Familial Colorectal Cancer, and Paget Disease of the Breast. Dr. Feagin is currently accepting new patients.

 
 
 
 
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Cheng Her
Experienced in Filippi Syndrome
Family Medicine
Experienced in Filippi Syndrome
Family Medicine

Viaro Professional Arts Ltd Health Care

230 Pine St, 
La Crosse, WI 
Languages Spoken:
English

Cheng Her is a primary care provider, practicing in Family Medicine in La Crosse, Wisconsin. Dr. Her is rated as an Experienced provider by MediFind in the treatment of Filippi Syndrome. His top areas of expertise are Cerebral Palsy, Char Syndrome, Vici Syndrome, and Cohen Syndrome.

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