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. |