Haydu-cheney syndrome Q75.-

Autosomal dominant inherited complex dysplasia syndrome with progressive localized bone destruction, osteoporosis with tendency to fracture (Samuel SS et al. 2016) with craniofacial anomalies in the form of a dolichocephaly with strongly accentuated occipital bone, flat nasal root, high arched, dense eyebrows, mono-brow (synophrys), micogeny, dentition disorders and premature tooth loss, as well as shortening of the end phalanges, nail hypoplasia and acroosteolyses. Less constant are ophthalmological disorders and hearing loss.

Mutations in exon 34 of the NOTCH2 gene, which codes for the NOTCH2 protein, have been shown. The pathological NOTCH protein leads to an increased NOTCH2 signaling activity (Canalis E et al. 2016). Dysregulations in the Notch signaling pathway are associated with pathological skeletal development.

Acromegaly, other syndromes with synophrys

NOTCH2 is a protein coding gene. Diseases associated with NOTCH2 include Alagille Syndrome 2 and Hajdu-Cheney Syndrome.

1. Canalis E et al (2014) Hajdu-Cheney syndrome: a review. Orphanet J Rare Dis. 9:200.
2. Canalis E et al (2016) Hajdu-Cheney Syndrome, a Disease Associated with NOTCH2 Mutations. Curr Osteoporos Rep 14:126-131.
3. Samuel SS et al (2016) Hajdu Cheney Syndrome. J Clin Diagn Res 10:OD07-9.