Hajdu–Cheney syndrome

Also known as: Acro-osteolysis syndrome

Acro-osteolysis, osteoporosis and distinctive facies.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Bone and mineral disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: NOTCH2

Etiology & mechanism

NOTCH2 truncating variants.

Gene(s) involved (1)

NOTCH2

Symptoms & signs (8)

acro-osteolysiscoarse faciesdental lossfractureshearing lossosteoporosisshort staturewormian bones

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.