RAPADILINO syndrome

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RAPADILINO syndrome

RAPADILINO syndrome (/ræpəˈdɪlɪnoʊ/; from RAdius absent, PAtelae small, DIarrhea and LImb NOrmal) is a rare genetic disorder characterized by specific features including limb malformations, growth retardation, and an increased risk of certain types of cancer.

Etymology

The term "RAPADILINO" is an acronym derived from the main features of the syndrome: RAdius absent, PAtelae small, DIarrhea and LImb NOrmal.

Symptoms

The symptoms of RAPADILINO syndrome can vary, but they often include:

  • Absence or underdevelopment of the radius (the bone in the forearm)
  • Small or absent patellae (kneecaps)
  • Diarrhea and malabsorption
  • Normal or near-normal limb length and intelligence

Causes

RAPADILINO syndrome is caused by mutations in the RECQL4 gene. This gene provides instructions for making a protein that is involved in maintaining the stability and integrity of DNA.

Diagnosis

Diagnosis of RAPADILINO syndrome is based on clinical features, and can be confirmed by genetic testing for mutations in the RECQL4 gene.

Treatment

Treatment for RAPADILINO syndrome is symptomatic and supportive, and may include physical therapy, surgical intervention for skeletal abnormalities, and regular monitoring for signs of cancer.

See also

References


External links

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