Table 1 Features in Jacobsen syndrome
From: Jacobsen syndrome
| Â | 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 | Â |
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) |