Haydu-cheney syndrome Q75.-

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

MIM 102500

Definition
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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.

Etiopathogenesis
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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.

Differential diagnosis
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Acromegaly, other syndromes with synophrys

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

Literature
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  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.

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 29.10.2020