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.

Genetic markers

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
Hands and feet
  • 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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