Kenny–Caffey syndrome

Also known as: Tubular stenosis with hypocalcemia

Short stature, tubular bone thickening and hypoparathyroidism.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Bone and mineral disorders
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: FAM111A, TBCE

Etiology & mechanism

TBCE or FAM111A variants.

Gene(s) involved (2)

FAM111ATBCE

Symptoms & signs (6)

delayed fontanelle closureeye anomalieshypocalcemiamacrocephalyshort staturethickened long bones

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