Nail-patella syndrome

Nail-patella syndrome is an autosomal dominant disorder. Dysplasia of the nails and absent or hypoplastic patellae are the leading symptoms, occasionally associated with other skeletal abnormalities and hereditary nephritis.

Epidemiology

The incidence is about 1 in 50,000 live births. The mutation rate seems to correlate with father's age.

Clinical Findings

Skeletal abnormalities are striking in onychoosteodysplasia. Patients present with patellar aplasia or hypoplasia, dysplasia of the elbows, iliac horns, and dysplasia of the nails, predominantly the thumb. The disease is often associated with nephropathy and early onset glaucoma.

In patients suffering from nail-patella syndrome physical and mental performance is not impaired. Life expectation is normal.

Diagnosis

The diagnosis is made by the skeletal abnormalities. Molecular genetic analysis may help to define the underlying mutation and hence elucidation the pathogenesis.

Pathogenesis

Onychoosteodysplasia is caused by mutations of the LMX1B gene.

Systematic

Glomerular basement membrane disorders
	Alport Syndrome
	HANAC syndrome
	Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
	MYH9 related disorders
	Nail-patella syndrome
		LMX1B
	Nephropathy with pretibial epidermolysis bullosa and deafness
	PXDN
	Thin basement membrane nephropathy