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Table 1 Features in Jacobsen syndrome

From: 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)