Hand defects and the eye

Chapter 118 Hand defects and the eye

The combination of hand and eye defects is frequent and may be observed in a variety of disorders: Duane’s syndrome,13 Möbius’ syndrome,2 CHARGE association,4 and many others. There may be genetic causes, including specific genes and/or new mutations,1,5,6 but, due to incomplete penetrance, sporadic events, and association with environmental factors,2 it is not always possible to determine the underlying mechanism.


The etiology of most limb defects (Table 118.1) is unknown. Familial associations indicate a genetic basis for some cases; however, environmental agents such as drugs2 may be related to the development of limb defects. Developmental abnormalities such as amniotic bands, oligohydramnios, and local vascular disruption are also associated with limb abnormalities.7 Eye defects and hand/finger anomalies originate usually between the third and the fifth week of gestation. Many loci and gene mutations have been associated with hand and eye anomalies.1,46

Table 118.1 Common terms used for malformations of limbs and fingers

Anomaly Definition

The various hand and eye defects can be grouped according to their similarity in overall features, or according to one major feature among the patterns of malformation, in the same manner as Smith’s recognizable patterns of malformation.8 Many conditions present with occasional hand and eye defects, but only the most important and consistent associations are described in Table 118.2

Table 118.2 Disease and related eye/ocular region and hand/finger anomalies

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Jun 4, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Hand defects and the eye

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Group/disease Eye/ocular region anomalies Hand/finger anomalies
Chromosomal syndromes
Down’s syndrome (trisomy 21) Upslanting palpebral fissures, epicanthal folds, iris Brushfield’s spots, keratoconus, strabismus, nystagmus, myopia, cataracts Short metacarpals and phalanges, fifth finger mid-phalanx hypoplasia, single transverse palmar (Simian) crease
Trisomy 18 Short/slanted palpebral fissure, ptosis, hypertelorism, iris coloboma, cataract, microphthalmos Clenched hand, overlapping of fingers, absence of distal crease, hypoplasia of nails, hypoplastic or absent thumb, syndactyly, polydactyly, ectrodactyly, short fifth metacarpals
Trisomy 13 (Patau’s syndrome)