Table 1

 Summary of clinical findings in patients with congenital fibrosis of extraocular muscles with ulnar hand abnormalities (CFEOM/U) syndrome

FeatureFamily member
II-9II-14III-10III-11IV-1
RightLeftRightLeftRightLeftRightLeftRightLeft
Ab, absent; Cl, clinodactyly; hT, hypotropia; Hy, hypoplastic; IO, inferior oblique muscle; IR, inferior rectus muscle; Lev, levator palpebrae superioris muscle; M, metacarpal bone; P, phalangeal bone; PD, prism diopters; SR, superior rectus muscle; Sy, syndactyly; XT, exotropia.
Numbers following abbreviations represent the relevant finger numbers.
Visual acuity20/2020/2020/20020/2020/2020/2020/20020/205/20020/20
Anterior segmentNormalNormalNormalNormalNormalNormalNormalNormalMicrocorneaNormal
Posterior segmentNormalNormalNormalNormalNormalNormalNormalNormalTilted discNormal
Ocular motility
    Deviation14 PD XT12 PD XT16 PD XT18 PD XT
25 PD hT25 PD hT20 PD hT
    Dysfunctioning muscle(s)SR,IOLev,SR,IOSR, IOIOSR, IOAll
PtosisNoneNoneMarkedNoneNoneNoneMildNoneMarkedNone
Anomalous head postureChin elevationChin elevationSlight head tiltSlight head tiltHead turn
Forced duction(−)(−)(−)(−)(−)(−)(+)(−)
Hand abnormalitiesAb 5; Cl Hy 4Ab 5; small fifth finger budAb 5Ab 5Ab 5Hy 4,5; Sy 4–5; Ab nail 5Ab 5; Cl 4Ab 5Ab 3,4,5Ab 4,5
Hand radiographyAb MP 5; Hy MP 4; Hy ulnar styloid process; Ab triquetrum and pisiform; fused capitate and hamateAb MP 5; bipartite scaphoidAb MP 5; Hy ulnar styloid process; fused triquetrum and lunateAb MP 5; Hy ulnar styloid process; fused triquetrum and lunateAb MP 5Ab MP 5; Hy MP 4Ab MP 5Ab MP 5Ab MP 3,4,5Ab MP 4,5