Nail-Patella Syndrome (NPS)

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Description

Nail-Patella Syndrome (NPS), also known as Hereditary Osteo-onychodysplasia, is a rare genetic disorder characterized by abnormalities in the nails, kneecaps (patellas), and elbows. This condition affects individuals differently, with some experiencing mild symptoms while others face more significant challenges. Understanding NPS, its causes, and management strategies can empower individuals to live fulfilling lives.

Genes Involved

Genes Involved:

Nail-Patella Syndrome is caused by mutations in the LMX1B gene. This gene provides instructions for making a protein that plays a crucial role in the development of various tissues, including the nails, bones, and kidneys.

Recognizing the Signs and Symptoms

Recognizing the Signs and Symptoms:

• Nail Abnormalities:
  • Small, thin, or absent fingernails and toenails.
  • Horizontal ridges (grooves) across the nails.
  • Nail dystrophy (abnormalities in nail growth).
• Skeletal Abnormalities:
  • Patella (kneecap) problems:
    • Patellar dysplasia (abnormal kneecap development).
    • Patellar dislocation (kneecap slipping out of place).
    • Patellar aplasia (absence of the kneecap).
  • Elbow problems:
    • Elbow dysplasia (abnormal elbow development).
    • Elbow dislocations.
  • Other skeletal problems:
    • Hip dysplasia (abnormal hip joint development).
    • Scoliosis (curvature of the spine).
    • Spinal stenosis (narrowing of the spinal canal).
• Kidney Problems:
  • Glomerulonephritis (inflammation of the filtering units in the kidneys)
  • Kidney failure (in severe cases).
• Other Potential Symptoms:
  • Hearing loss
  • Eye problems (e.g., glaucoma)
  • Cardiac abnormalities (rare)

Causes

Causes:

Nail-Patella Syndrome is an inherited disorder. It is passed down through families in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

Inheritance/recurrence risk

Inheritance or Recurrence Risk:

If one parent has NPS, there is a 50% chance of their child inheriting the condition. If both parents have NPS, there is a 75% chance their child will inherit it. However, the severity of the condition can vary between family members, even with the same mutation.