Nail-patella syndrome

Also known as: Fong disease; Turner–Kieser syndrome

Nail dysplasia, absent patellae and nephropathy.

Medical specialty: Orthopedics
Subspecialty: Orthopedics / Skeletal dysplasia
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: LMX1B

Etiology & mechanism

LMX1B transcription factor mutation.

Gene(s) involved (1)

LMX1B

Symptoms & signs (6)

absent or hypoplastic patellaeelbow dysplasiaglaucomailiac hornsnail dysplasianephropathy

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