Exostoses arising from the posterior aspect of the iliac bones ("iliac horns") are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome. Other reported bone changes include scoliosis, scapular hypoplasia, and the presence of cervical ribs. Glaucoma is also closely associated with nail-patella, specifically open-angled glaucoma (OAG). Side affects may include frequent headaches, blurred vision, or total vision loss. This occurs gradually over time and symptoms may not be evident in children.Kidney issues may arise such as deposition of protein in the urine and nephritis. Proteinuria is usually the first sign of kidney involvement. It can reveal itself either rapidly or years after having asymptomatic deposition of protein in the urine, kidney failure occurs in around 5% of NPS patients. Hypothyroidism, irritable bowel syndrome, attention deficit hyperactivity disorder (ADHD), and thin tooth enamel are associated with NPS, but whether these are related or simply coincidences are unclear. Genetics
Nail–patella syndrome is inherited via autosomal dominancy linked to aberrancy on human chromosome 9s q arm  (the longer arm), 9q34. This autosomal dominancy means that only a single copy, instead of both, is sufficient for the disorder to be expressed in the offspring, meaning the chance of getting the disorder from an affected heterozygous parent is 50%. The frequency of the occurrence is 1/50,000. The disorder is linked to the ABO blood group locus.It is associated with random mutations in the LMX1B gene. Studies have been conducted and 83 mutations of this gene have been identified.
Diagnosis
The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Sometimes, this disease causes the affected person to have either no thumbnails or a small piece of a thumbnail on the edge of the thumb. The lack of development or complete absence of fingernails results from the loss of function mutations in the LMX1B gene. This mutation may cause a reduction in dorsalising signals, which then results in the failure to normally develop dorsal specific structures such as nails and patellae. Other common abnormalities include elbow deformities, abnormally shaped pelvic (hip) bones, and kidney disease. Treatment
Treatment for NPS varies depending on the symptoms observed. Perform screening for kidney disease and glaucoma, surgery, intensive physiotherapy, or genetic counseling. ACE inhibitors are taken to treat proteinuria and hypertension in NPS patients. Dialysis and kidney transplant. Physical therapy, bracing and analgesics for joint pain. See also
List of cutaneous conditions
List of radiographic findings associated with cutaneous conditions

References
External links
GeneReview/NCBI/NIH/UW entry on nail–patella syndrome