TABLE 3

Summary of Occurrence of Specific Clinical Manifestations in CFC

CommonMay OccurRare
Cardiac
Pulmonary valve stenosisSupravalvular pulmonary stenosisAortic root dilation
HCMBicuspid aortic valveRestrictive cardiomyopathy
Atrial septal defectCoarctation of the aortaEbstein’s anomaly of the tricuspid valve
Ventricular septal defectCoronary artery abnormality
Mitral valve anomaliesAortic valve thickening
Rhythm disturbance
Dermatologic
Ulerythema ophryogenesAcanthosis nigricansPapillomas
Keratosis pilaris/hyperkeratosisHyperplastic nipplesMultiple café-au-lait macules
Acquired melanocytic neviCreases on the fingertips
HemangiomasFoot callosities
Fast growth of nailsLymphedema
Sparse arm and leg hairGeneralized hyperpigmentation
Prepubertal axillary odor
Poor hair growth on scalp
Ear lobe creases
Xerosis/eczema
Neurologic
MacrocephalyMyelination abnormalityGray matter heterotopia
Hypotonia with motor delayVirchow-Robin spacesAbnormal corpus callosum
Ventriculomegaly/ hydrocephalusType I Chiari malformationArachnoid cyst
Neurocognitive delayOptic nerve hypoplasiaPeriventricular leukoencephalopathy
SeizuresCorticospinal tract findingsPeripheral neuropathy
Gastrointestinal
Suck/swallowing dysfunctionIntestinal malrotationIntestinal atrophy
Gastroesophageal refluxAnal stenosisAntral narrowing
ConstipationInguinal herniasAnal papilloma
Fetal polyhydramniosFecal impactionHepatomegaly
Gastrostomy tube feedingsFunctional megacolonFatty liver
Oral aversionUmbilical herniaCrohn disease
Musculoskeletal
Pes planusElbow contractureAbnormal tibial torsion
Hand dysfunctionKyphosisLordosis
ScoliosisFemoral retroversionTorticollis
Hip dysplasiaHip contracturesHallux valgus
Knee contracturesPectus deformityEquinus
Shoulder dysfunctionLeg painsRadial head subluxation
Dysfunctional gaitWrist instability
OsteopeniaShort metatarsals
Hypotonia