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Assess the hands, as the fingers are usually tapering; retinal examination will often show pigmentary changes. In the newborn, prominence of the nasal bridge is exceptional. A high nasal bridge in an infant with unusual tone, poor feeding, or tremulousness suggestive of seizure activity could be the clue to Wolf-Hirschhorn syndrome (chromosome 4p deletion). Extreme flattening of the nasal bridge and midfacial region is seen in chondrodysplasia punctata and in fetal warfarin embryopathy. In the absence of warfarin exposure, clinical findings of limb asymmetry, ichthyosis, or patchy areas of rough skin with large pores, resembling orange peel, strongly suggest chondrodysplasia punctata.

Evidence of cleft palate or uvula should be sought. By contrast, the development of discrete lumpy masses around the nares, signifying nasal papillomata, typically being noted around 5 or 6 years of age, is strongly indicative of Costello syndrome. There will be a background history of severe failure to thrive following normal or slightly increased birth weight, merging into later concerns as to an underlying storage disease due to the developmental delay and coarse appearance of the patient. There is usually excess palmar skin with palmar and plantar hyperkeratosis, and the position of the fingers can show significant ulnar drift.

The chest wall musculature should be formally examined, particularly the pectoralis major, the sternal head of which may be deficient in Moebius syndrome. Cleft palate is also described in Moebius syndrome, but cleft palate and myopathic facies are more likely to signify a distinct autosomal recessive condition, Carey-Fineman-Ziter syndrome. In the event of this syndrome being considered, a good clinical sign to look for is the presence of dimples at the wrist. Myopathic facies in a tall male with arachnodactyly and a marfanoid habitus but who is developmentally delayed is typical of the rare X-linked condition, Lujan-Fryns syndrome.