Table 1

Clinical features of Coffin-Lowry syndrome (based on patients reported in references 1–3 and 9–19)

MalesFemales
Growth and development
    Stature
        <3rd centile37/3911/24
        <10th centile2/394/24
    Retardation
        Severe41/415/34
        Mild23/34
        Normal IQ6/34
Dysmorphism
    Prominent forehead/coarse facies37/3726/29
    Hypertelorism42/4214/22
    Downward slanting palpebral fissures35/409/17
    Broad nose/thick septum34/3720/23
    Full everted lips/wide mouth40/4222/28
    Hypodontia19/223/13
    Pectus excavatum/carinatum26/325/17
    Kyphosis/scoliosis30/386/23
    Soft, stubby, tapering fingers42/4234/35
    Hypothenar crease20/2214/16