Nail-patella syndrome

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Nail-patella syndrome (pronounced: nayl puh-tel-uh sin-drohm) is a rare genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis. The syndrome is also known as Hereditary Onycho-Osteodysplasia (HOO) or Fong Disease.

Etymology

The term "Nail-patella" comes from the Latin words "nail" meaning "nail" and "patella" meaning "small dish", referring to the characteristic nail and kneecap abnormalities seen in this condition. The term "Hereditary Onycho-Osteodysplasia" is derived from the Greek words "onyx" meaning "nail", "osteon" meaning "bone", and "dysplasia" meaning "abnormal growth or development".

Symptoms

The most common symptoms of Nail-patella syndrome include nail dysplasia, where the nails are absent, small, or ridged; patellar aplasia or hypoplasia, where the kneecaps are absent or underdeveloped; elbow abnormalities, which can limit movement; and iliac horns, which are bony protrusions on the pelvis.

Genetics

Nail-patella syndrome is caused by mutations in the LMX1B gene and is inherited in an autosomal dominant manner. This means that an individual only needs one copy of the altered gene to be affected by the disorder.

Diagnosis

Diagnosis of Nail-patella syndrome is typically based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Nail-patella syndrome is symptomatic and supportive, and may include physical therapy, pain management, and, in some cases, surgery.

See also

External links

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