Hajdu-Cheney syndrome is a very rare connective tissue disorder with only 50 cases reported in the literature .
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 . Clinical features include:
- short stature; premature loss of dentition; short webbed neck
- 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
Diagnosis involves genetic testing searching for the truncating mutation in the terminal exon of NOTCH2 .
- congenital heart disease (VSD, ASD, PDA, Mitral regurgitation)
- polycystic kidney disease
- recurrent respiratory tract infections
Hands and feet
- transverse band of osteolysis in distal phalanges is characteristic
- distal to proximal osteolysis is also seen
- bathrocephaly (bulging of squamous occipital bone)
- delayed closure of sutures
- thickening of the mastoids
- aplasia of the frontal sinuses
- J-shaped enlarged sella
- platybasia with or without basilar invagination
- hypoplastic maxilla
- malalignment of teeth
- wide mandibular angle
Treatment and prognosis
Management is symptomatic and involves regular follow-up. Prevention of osteoporosis, vitamin D and bisphosphonates may also have a role .
History and etymology
First described by Nicholas Hajdu (1908–1987), Hungarian-English radiologist in 1948 as cranioskeletal dysplasia and later in 1965, by William D. Cheney (1899–1985), American radiologist as acro-osteolysis .
These involve other causes of acro-osteolysis and can be differentiated radiologically .Amongst others, they include the following: