RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.
Most affected individuals have underdevelopment or absence of the bones in the forearms
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Symptoms of RAPADILINO syndrome
Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms
- Aplasia ...
Genetics of RAPADILINO syndrome
Mutations in the RECQL4 gene cause RAPADILINO syndrome . This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double
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Names and Terminology
Other Names for This Condition
- absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
- radial and patellar aplasia
- radial and patellar hypoplasia ...
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- Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ rapadilino-syndrome
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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.