Figure 1.

Clinical characteristics of different EDS types. (A–E): Individuals with classical Ehlers–Danlos syndrome with pathogenic variants in COL5A1 presenting epicanthal folds (A,C), a somewhat flattened facial appearance (B), skin hyperextensibility (D) and atrophic scars and molluscoid pseudotumors (E). (F–I): Individuals with brittle cornea syndrome in whom pathogenic defects in ZNF469 were identified. Clinical characteristics include hypertelorism, downslanting palpebral fissures, (variable) blue sclerae (F–H), synophrys (H) and deformities of the feet (I). (J–L): Individuals with musculocontractural Ehlers–Danlos syndrome with pathogenic variants in CHST14 presenting atrophic scars (K); facial features including flattened profile, malar hypoplasia, downslanting palpebral fissures, blue sclerae, long philtrum with thin upper lip and protruding jaw with pointed chin (J); and characteristic hand deformities (L). (M): Individual with dermatosparaxis Ehlers–Danlos syndrome and characteristic facial appearance including downslanting palpebral fissures, mild telecanthus, palpebral edema, epicanthic folds, blue sclerae, low-set and floppy ears, saggy cheeks and prominent lips. (N–S): Individuals with spondylodysplastic Ehlers–Danlos syndrome with pathogenic variants in B3GALT6 presenting flexion contractures (N–S), short and deformed extremities (N–S), muscle atrophy (S), severe kyphoscoliosis with pectus deformities (N–Q) and hyperextensible skin (R). Facial features include midfacial hypoplasia with frontal bossing, blue sclerae, downslanting of the palpebral fissures, a short nose with anteverted nares, a long philtrum and low-set ears (N,P).