Nail–patella syndrome
Nail–patella syndrome (pronounced: nail-puh-tell-uh sin-drome), also known as hereditary onycho-osteodysplasia (HOOD), is a rare genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis.
Etymology
The term "Nail–patella" comes from the Latin words unquis meaning "nail" and patella meaning "kneecap". The syndrome is so named because the most common features involve the nails and kneecaps.
Symptoms
The most common symptoms of Nail–patella syndrome include:
- Nail dysplasia: This is the most common symptom, affecting up to 98% of individuals with the syndrome. The nails may be absent, small, or poorly developed.
- Patellar aplasia or hypoplasia: The kneecaps may be small, irregularly shaped, or absent.
- Elbow abnormalities: These may include limited movement, deformities, and an increased risk of dislocation.
- Iliac horns: These are bony protrusions on the pelvis that are a characteristic feature of Nail–patella syndrome.
Causes
Nail–patella syndrome is caused by mutations in the LMX1B gene. This gene provides instructions for making a protein that is involved in the development of the limbs, kidneys, and eyes.
Diagnosis
Diagnosis of Nail–patella syndrome is based on the presence of the characteristic clinical features. Genetic testing can confirm the diagnosis.
Treatment
Treatment of Nail–patella syndrome is symptomatic and supportive. Physical therapy may be beneficial for joint problems. Regular monitoring of kidney function is recommended.
See also
External links
- Medical encyclopedia article on Nail–patella syndrome
- Wikipedia's article - Nail–patella syndrome
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