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Head and neck — Characteristic dysmorphic features of DS affecting the head and neck include:
●Upslanting palpebral fissures
●Epicanthic folds (picture 1)
●Flat facial profile/flat nasal bridge
●Folded or dysplastic ears
●Low-set small ears
●Brachycephaly
●Brushfield spots
●Open mouth
●Protruding tongue (picture 1)
●Furrowed tongue
●Short neck
●Excessive skin at nape of the neck
●Narrow palate
●Abnormal teeth
Extremities — Characteristic dysmorphic features of DS affecting the extremities include:
●Short broad hands
●Incurved fifth finger with hypoplastic mid phalanx
●Transverse palmar crease (picture 2)
●Space between the first and second toes (sandal gap)
●Hyperflexibility of joints
Neonatal features — Ten of the characteristic dysmorphic features are common in newborns with DS and are usually recognized soon after birth. In a series of 48 affected newborns, all had four or more features, and 89 percent had six or more [1,3]:
●Flat facial profile
●Slanted palpebral fissures
●Anomalous ears
●Hypotonia (picture 3)
●Poor Moro reflex
●Dysplasia of midphalanx of fifth finger
●Transverse palmar (Simian) crease (picture 2)
●Excessive skin at nape of the neck
●Hyperflexibility of joints
●Dysplasia of pelvis
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