GTR Home > Conditions/Phenotypes > Cardio-facio-cutaneous syndrome

Disease characteristics

Excerpted from the GeneReview: Cardiofaciocutaneous Syndrome
Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia (ALL), has been reported in some individuals.

Associated genes

Clinical features

  • Splenomegaly
  • Strabismus
  • Hypertonia
  • Bulbous nose
  • Short stature
  • Curly hair
  • Epicanthus
  • Tongue thrusting
  • Slow-growing hair
  • Prominent forehead
  • Narrow forehead
  • Deep philtrum
  • Absent eyelashes
  • Intellectual disability
  • Atopic dermatitis
  • Relative macrocephaly
  • Posteriorly rotated ears
  • Anteverted nares
  • Coarse facial features
  • Dolichocephaly
  • Open mouth
  • Multiple palmar creases
  • Multiple plantar creases
  • Proptosis
  • Downslanted palpebral fissures
  • Progressive visual loss
  • Micrognathia
  • Seizure
  • Constipation
  • Hydrocephalus
  • Nystagmus
  • Osteopenia
  • Premature birth
  • Failure to thrive
  • Feeding difficulties in infancy
  • Optic nerve dysplasia
  • Vomiting
  • Hydronephrosis
  • Submucous cleft hard palate
  • High palate
  • Hypertelorism
  • Hearing impairment
  • Low-set ears
  • Ptosis
  • Myopia
  • Oculomotor apraxia
  • Dental malocclusion
  • Pectus excavatum
  • Pectus carinatum
  • Hyperkeratosis
  • Multiple lentigines
  • Cavernous hemangioma
  • Hyperextensibility of the finger joints
  • Muscular hypotonia
  • Polyhydramnios
  • Defect in the atrial septum
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Gastroesophageal reflux
  • Cerebral cortical atrophy
  • Absent eyebrow
  • Delayed skeletal maturation
  • Short nose
  • Peripheral axonal neuropathy
  • Clinodactyly of the 5th finger
  • Depressed nasal bridge
  • Hypoplasia of the frontal lobes
  • Aplasia/Hypoplasia of the corpus callosum
  • Ichthyosis
  • Sparse hair
  • Underdeveloped supraorbital ridges
  • Anterior creases of earlobe
  • Open bite
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