Hajdu-Cheney syndrome

Hajdu-Cheney Syndrome is a rare connective tissue disorder characterized by acro-osteolysis, osteoporotic changes of the spine/long bones of extremities, and insufficient ossification of the skull. Disturbed notch pathway that plays a role in bone formation leads to these anomalies.

Skeletal dysplasia

NOTCH2 [HSA:4853] [KO:K02599]

PMID:21681853 (gene)

Majewski J, Schwartzentruber JA, Caqueret A, Patry L, Marcadier J, Fryns JP, Boycott KM, Ste-Marie LG, McKiernan FE, Marik I, Van Esch H, Michaud JL, Samuels ME

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

Hum Mutat 32:1114-7 (2011)

PMID:21378989 (gene)

Isidor B, Lindenbaum P, Pichon O, Bezieau S, Dina C, Jacquemont S, Martin-Coignard D, Thauvin-Robinet C, Le Merrer M, Mandel JL, David A, Faivre L, Cormier-Daire V, Redon R, Le Caignec C

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

Nat Genet 43:306-8 (2011)

PMID:11343321 (description)

Brennan AM, Pauli RM

Hajdu--Cheney syndrome: evolution of phenotype and clinical problems.

Am J Med Genet 100:292-310 (2001)