Hajdu-Cheney syndrome

Last revised by Joshua Yap on 9 Feb 2023

Hajdu-Cheney syndrome is a very rare connective tissue disorder with only 50 cases reported in the literature 7.

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

Clinical features include:

  • short stature, short webbed neck

  • premature loss of dentition

  • pseudoclubbing: shortening of digits, pain in digits

  • optical atrophy, optic disc edema

  • 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.

  • 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.

First described by Nicholas Hajdu (1908-1987), a Hungarian-English radiologist, in 1948 as cranioskeletal dysplasia, and later in 1965 by William D Cheney (1899-1985), an American radiologist, as acro-osteolysis 1,2.

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

ADVERTISEMENT: Supporters see fewer/no ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.