Nail–patella syndrome

Also known as: Fong disease; Hereditary osteo-onychodysplasia

Nail dysplasia, absent patellae, iliac horns and nephropathy.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: LMX1B

Etiology & mechanism

LMX1B haploinsufficiency.

Gene(s) involved (1)

LMX1B

Symptoms & signs (7)

absent patellaeelbow dysplasiaglaucomahematuriahypoplastic nailsiliac hornsproteinuria

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