Table 1 Clinical features of VDEGS

Blepharophimosis, hypoplastic maxillae, nasal abnormalities (one or more of the following: narrow nose, flat nasal bridge, nasal tip abnormalities, beaked nasal appearance, and occasionally pseudocleft of the columella), everted lower lip, triangular face, arachnodactyly, camptodactyly in the fingers, flexion contracture or limited mobility of the elbows

High arched palate, bilateral radial head dislocation (with or without hypoplasia of the radial head), slender ribs, clavicular abnormalities, valgus deformities of the big toes, faint/absent distal flexion creases of the fingers

Small scapulae, bowing of the femoral and humeral shafts, bowing of the proximal ulna, cleft palate, 2–3 toe syndactyly, renal abnormalities, craniosynostosis, speech delay, sacral dimple, ear abnormalities (low-set ears, posteriorly-rotated ears, folded ear helix, prominent ears, large ears), eye abnormalities (microphthalmia, corneal opacity, nystagmus, squint), cerebellar enlargement, scoliosis, transient hypocalcemia at birth, hypoplastic nails with short distal phalanges, clinodactyly of fingers or toes, club feet, hypoplasia of the glenoid fossa, micrognathia, learning disability, single umbilical artery, laryngeal abnormalities, sensorineural hearing loss, deviated nasal septum, hypospadias, atrial septal defect, significant developmental delay, joint laxity, recurrent patellar dislocation, short distal ulnae.