TABLE 3.

Summary of Occurrence of Specific Clinical Manifestations in CFC

Common	May Occur	Rare
Cardiac
Pulmonary valve stenosis	Supravalvular pulmonary stenosis	Aortic root dilation
HCM	Bicuspid aortic valve	Restrictive cardiomyopathy
Atrial septal defect	Coarctation of the aorta	Ebstein’s anomaly of the tricuspid valve
	Ventricular septal defect	Coronary artery abnormality
	Mitral valve anomalies	Aortic valve thickening
		Rhythm disturbance
Dermatologic
Ulerythema ophryogenes	Acanthosis nigricans	Papillomas
Keratosis pilaris/hyperkeratosis	Hyperplastic nipples	Multiple café-au-lait macules
Acquired melanocytic nevi	Creases on the fingertips
Hemangiomas	Foot callosities
Fast growth of nails	Lymphedema
Sparse arm and leg hair	Generalized hyperpigmentation
Prepubertal axillary odor
Poor hair growth on scalp
Ear lobe creases
Xerosis/eczema
Neurologic
Macrocephaly	Myelination abnormality	Gray matter heterotopia
Hypotonia with motor delay	Virchow-Robin spaces	Abnormal corpus callosum
Ventriculomegaly/ hydrocephalus	Type I Chiari malformation	Arachnoid cyst
Neurocognitive delay	Optic nerve hypoplasia	Periventricular leukoencephalopathy
Seizures	Corticospinal tract findings	Peripheral neuropathy
Gastrointestinal
Suck/swallowing dysfunction	Intestinal malrotation	Intestinal atrophy
Gastroesophageal reflux	Anal stenosis	Antral narrowing
Constipation	Inguinal hernias	Anal papilloma
Fetal polyhydramnios	Fecal impaction	Hepatomegaly
Gastrostomy tube feedings	Functional megacolon	Fatty liver
Oral aversion	Umbilical hernia	Crohn disease
Musculoskeletal
Pes planus	Elbow contracture	Abnormal tibial torsion
Hand dysfunction	Kyphosis	Lordosis
Scoliosis	Femoral retroversion	Torticollis
Hip dysplasia	Hip contractures	Hallux valgus
Knee contractures	Pectus deformity	Equinus
Shoulder dysfunction	Leg pains	Radial head subluxation
Dysfunctional gait		Wrist instability
Osteopenia		Short metatarsals
Hypotonia