CARDIO-FACIO-CUTANEOUS SYNDROME

The cover of 'Rare Disease Series #13 CARDIO-FACIO-CUTANEOUS SYNDROME'

About CARDIO-FACIO-CUTANEOUS SYNDROME

Illustration of a chromosome and words showing Genetic variants in the BRAF gene account for about 75%, genetic variants in MAP2K1 and MAP2K2 take up almost 25% and genetic variants in the KRAS gene take up less than 2%.
CARDIO-FACIO-CUTANEOUS SYNDROME(CFC SYNDROME) is a rare disease that affects parts throughout the body, including the heart, face, skin, and hair. It is part of the disease group called RASopathies.

CFC syndrome is usually derived from the defective BRAF gene, but also can be caused by the mutations in MAP2K1, MAP2K2, or KRAS gene.

PREVALENCE / ONSET

Map background with the silhouette of a baby with words saying, "The number of patients worldwide is about 200 to 300."
Prevalence

Currently, the exact prevalence of CFC syndrome is unknown. The approximate number of patients worldwide is about 200 to 300.

Onset

The symptoms of CFC syndrome are present from birth.

SYMPTOMS

Six symptoms of cardio-facio-cutaneous syndrome: macrocephaly, short webbed neck, distinctive dysmorphic facial features, cardiac abnormalities, feeding difficulties, growth delays

DIAGNOSIS

Usually, the diagnosis of CFC syndrome can be done based on physical findings and clinical evaluation.

To confirm the causative gene, multigene panel testing including all known RASopathy genes is often used.

Like the diagnostic case of two boys with CFC syndrome (My Odyssey #4: Diagnosis story of 2 kids with Cardio-facio-cutaneous syndrome), Whole exome sequencing can also be used for diagnosis if a patient’s symptoms and conditions cannot narrow the suspected diseases to a specific disease group.

INHERITANCE PATTERN

A family tree showing autosomal dominant inheritance pattern of CFC syndrome.
CFC syndrome usually occurs from new gene mutations(de novo). However, in some cases, it has been found to inherit in an autosomal dominant pattern.

TREATMENTS

  1. ic-treatments-black@3x-3
  2. Currently, there are no treatments to cure all symptoms of CFC syndrome once.

    Treatment depends on each patient’s unique characteristics which may require the efforts of several specialists including pediatricians, dermatologists, cardiologists, and other professionals.

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