TABLE 2.
Differential Diagnosis of CFC and Other Conditions
| Syndrome | Common Features With CFC | Differences With CFC |
|---|---|---|
| NS | Hypertelorism, 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. |
| CS | Coarse 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 syndrome | Hypertelorism, ptosis, short stature, and cognitive delay. | Iris coloboma, lissencephaly, pachygyria, aortic valve anomalies, and facial features less coarse. |
| NS with loose anagen hair | Triangular 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. |