CARDIO-FACIAL-CUTANEOUS (CFC) SYNDROME

 

CARDIO-FACIAL-CUTANEOUS (CFC) SYNDROME

 

DEFINITION:

A syndrome characterized by typical cardiovascular, facial and skin features.

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • newborn -> infancy
  • risk factors:
    • sporadic
    • ? increased paternal age

PATHOGENESIS:

1. Background

  • first reported in 1986 by Reynolds et al. (Am. J. Med. Genetics 25:413)
  • also called:
    • CFC Syndrome
    • Cardio-Facio-Cutaneous Syndrome
    • Facio-Cardio-Cutaneous Syndrome

CLINICAL FEATURES:

1. Cardiac Manifestations

  • atrial septal defect (ASD)
  • pulmonary valve stenosis

2. Facial Manifestations

  • macrocephaly
  • large prominent forehead
  • bitemporal narrowing
  • hypoplastic (shallow) supraorbital ridges
  • down-slanting palpebral fissures
  • hypertelorism
  • ptosis
  • exophthalmos
  • short upturned nose
  • depressed nasal bridge
  • prominent philtrum
  • posterior rotated ears with prominent helices

3. Cutaneous Manifestations

1. Hair

  • curly, slowly-growing hair
  • sparse and friable
  • lack of eyebrows and eyelashes

2. Skin

  • varies from severe atopic dermatitis to hyperkeratosis/ichthyosis-like lesions
  • hemangiomatosis

4. Others

1. Neurological

  • hypotonia
  • nystagmus and/or strabismus
  • mild-moderate mental deficiency
  • global developmental delay

2. Rare

  • failure to thrive
  • hearing loss
  • splenomegaly

INVESTIGATIONS:

1. CT Scan of Head

  • mild hydrocephalus
  • cortical atrophy
  • hypoplasia of the frontal lobes
  • brain stem atroph

MANAGEMENT:

1. Supportive

  • multidisciplinary approach:
    • Paediatrics, Cardiovascular, Dermatology, Neurology
    • OT and PT

2. Prognosis

  • normal life span

ADDITIONAL REFERENCES:

1. Buyse, Mary-Louise. Birth Defects Encyclopedia (2nd Edition). p. 282 (1994).
2. Jones, K.L., Smith's Recognizable Patterns of Human Malformation Syndromes (5th Edition). p. 126 (1997).

 

 

 

Pediatric Database - CARDIO-FACIAL-CUTANEOUS (CFC) SYNDROME

Pediatric Organization - Pedbase [at] Gmail.com