RAPADILINO syndrome
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
- Medical encyclopedia article on RAPADILINO syndrome
- Wikipedia's article - RAPADILINO syndrome
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