Table 1.

Features in Jacobsen syndrome

	Very frequent (> 40%)	Less frequent (< 40%)
Craniofacial abnormalities	Skull deformities, macrocrania High prominent forehead Facial asymmetry	Trigonocephaly (see Text)
Eyes	Ocular hypertelorism Downslanting palpebral fissures Divergent or convergent strabismus Palpebral ptosis Sparse eyebrows Epicanthal folds	Eyelid coloboma Ectropion Iris coloboma Cataract Tortuosity of retinal vessels
Nose	Flat nasal bridge (early aspect) Prominent nasal bridge (late aspect) Short nose Anteverted nares Prominent columella	Broad nasal bridge
Ears	Small ears Low set ears Posteriorly rotated ears Malformed external ears Hypoplastic lobus
Mouth	Long philtrum Flat philtrum V-shape mouth Thin upper lip Retrognathia	High arched palate Thick lower lip Dental anomalies
Neck	Short neck	Webbed neck
Hands	Cutaneous syndactyly Flat finger pads with fetal tubercule Thin fingers, large 1st interphalangeal joints Hypoplastic hypotenar regions Abnormal palmar creases	Hypoplastic tenar
Feet	Stubby and flat feet Large and long first toe Clynodactylous toes Brachydactyly Syndactyly of II and III toes	Crowded toes Zygodactyly (toes 2 and 3 very similar)