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Article

Phenotype variability in Hajdu-Cheney syndrome.

European journal of medical genetics - 1 Jan 2019

Regev Miriam, Pode-Shakked Ben, Jacobson Jeffrey M, Raas-Rothschild Annick, Goldstein David B, Anikster Yair

Abstract excerpt

Hajdu Cheney syndrome is a rare autosomal dominant skeletal dysplasia, with multi-organ involvement, caused by pathogenic variants in NOTCH2. It is characterized by progressive focal bone destruction, including acro-osteolysis and generalized osteoporosis, craniofacial anomalies, hearing loss, cardiovascular involvement and polycystic kidneys. Distinct radiographic findings, such as a serpentine fibula, may aid...

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Source

Identifiers

PMID: 29698804
DOI: 10.1016/j.ejmg.2018.04.015

Genes

NOTCH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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