Syndromes and rare diseases in neck

3.45: Syndromes and rare diseases in neck

Arangaswamy Anbarasu

Classification of syndromes is complex, and more than 3000 syndromes are known to have described. With more genetic basis of syndromes being now discovered, many of the previous classifications are becoming redundant. More and more understanding of genetic, embryologic and pathologic basis of such combinations will be changing the understanding of these syndromes in future, therefore changing the management.

The following pages give a limited list of syndromes based on the location of abnormality; this is not a complete list, and readers are urged to refer further as the list can be enormous.

Dentition is extensively affected in many of these syndromes; in fact, oral and maxillofacial surgeons have more understanding of many of these complex syndromes as they are often involved in management.

Many syndromes have clinical manifestations that are not seen on imaging, e.g. skin and mucosal changes (e.g. pigmented skin, ash leaf macule, fissured tongue, etc.). When it involves the skeleton, imaging plays an important role in diagnosis and management. The list described in this chapter has included few of those, which will have imaging as part of management.

Syndromes associated with cleft lip and palate

  • Pierre Robin
  • Treacher Collins
  • Goldenhar’s
  • Mobius
  • Nager’s Acrofacial Dysostosis
  • Goldz–Gorlin.


Premature fusion of part of one or more cranial sutures results in altered shape of cranium.

This can be primary (commonest), secondary (to retarded brain growth) or syndromic.

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Mar 25, 2024 | Posted by in CARDIOVASCULAR IMAGING | Comments Off on Syndromes and rare diseases in neck

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