PEDBASE.org - The Pediatric Database - Detailed information of 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

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