Hajdu-Cheney syndrome

Hajdu-Cheney syndrome was first described as cranioskeletal dysplasia 1 in 1948. It is a very rare connective tissue disorder with only 50 cases reported in the literature 2.

It is mostly diagnosed in adulthood or adolescence with the presence of a positive family history. There has been no link between severity of disease and age of diagnosis 3. Clinical features include:

  • short stature; premature loss of dentition; short webbed neck
  • pseudoclubbing; shortening of digits; pain in digits
  • optical atrophy; optic disc oedema
  • hearing loss (conductive or sensorineural)
  • frontal and occipital headaches (due to basilar invagination)
  • craniofacial features: frontal bossing, widely spaced eyes, micrognathia, long philtrum, flat nasal bridge, coarse hair, low set ears and a low hairline

It is associated with osteoporosis, bony deformities and acro-osteolysis. It follows an autosomal dominant inheritance but can also result from spontaneous de novo mutations.

Diagnosis involves genetic testing searching for the truncating mutation in the terminal exon of NOTCH2.4

  • congenital heart disease (VSD, ASD, PDA, Mitral regurgitation)
  • polycystic kidney disease
  • recurrent respiratory tract infections
  • acro-osteolysis
  • transverse band of osteolysis in distal phalanges is characteristic.
  • distal to proximal osteolysis is also seen
  • hypoplastic maxilla
  • malalignment of teeth
  • wide mandibular angle 

Management is symptomatic and involves regular follow-up. Prevention of osteoporosis, vitamin D and bisphosphonates may also have a role 6.

These involve other causes of acro-osteolysis and can be differentiated radiologically 5. Amongst others, they include the following:

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Article information

rID: 31857
Section: Syndromes
Synonyms or Alternate Spellings:
  • Hajdu-Cheney syndrome (HCS)
  • Hajdu Cheney syndrome

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