Differential Diagnosis of CFC and Other Conditions

SyndromeCommon Features With CFCDifferences With CFC
NSHypertelorism, downslanting palpebral fissures, ptosis, short stature, relative macrocephaly, PVS, HCM, atrial septal defect, and some with cognitive delay.Facial features less coarse, lower incidence of severe feeding problems, fewer cutaneous features such as follicular hyperkeratosis, sparse eyebrows, ulerythema ophryogenes, and less incidence of marked cognitive delay.
CSCoarse facial features, curly hair, broad nasal bridge, downslanting palpebral fissures, epicanthal folds, PVS, HCM, pectus deformity, short stature, and intellectual disability.Papillomata of the face or perianal regions, multifocal atrial tachycardia, ulnar deviation of wrist and fingers, and loose skin.
NS with multiple lentigines (formerly LEOPARD syndrome)Short stature, hypertelorism, PVS, HCM, and some with cognitive delay.Multiple skin lentigines, frequent sensorineural deafness, cardiac conduction abnormalities, and less incidence of marked cognitive delay.
Baraitser-Winter syndromeHypertelorism, ptosis, short stature, and cognitive delay.Iris coloboma, lissencephaly, pachygyria, aortic valve anomalies, and facial features less coarse.
NS with loose anagen hairTriangular facies, hypertelorism, high forehead, sparse thin hair, short stature, eczema, dry skin, and macrocephaly.After infancy facial features less coarse, mitral valve dysplasia, and less incidence of marked cognitive delay.