RAPADILINO syndrome
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Alternate names[edit | edit source]
Radial and patellar aplasia; Radial and patellar hypoplasia; Absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
RAPADILINO expanded[edit | edit source]
A rare syndrome for which the acronym indicates the principal signs:
- RA for radial ray defect,
- PA for both patellae aplasia or hypoplasia and cleft palate or highly arched palate,
- DI for diarrhea and dislocated joints,
- LI for little size and limb malformations,
- NO for long, slender nose and normal intelligence.
Epidemiology[edit | edit source]
Prevalence is unknown, but the disease is rare. It was first described in families originating from different parts of Finland, but non-Finnish cases were later identified.
Clinical features[edit | edit source]
Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause.
--Etiology== RAPADILINO syndrome is caused by mutations of the RECQL4 gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer.
Genetic counseling[edit | edit source]
RAPADILINO syndrome is transmitted in an autosomal recessive manner.
Signs and symptoms[edit | edit source]
Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause.
Cause[edit | edit source]
RAPADILINO syndrome is caused by mutations of the RECQL4 gene, a member of the family of RecQ-helicase genes which are at the origin of diseases predisposing to cancer.
Diagnosis[edit | edit source]
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Treatment[edit | edit source]
Orthopedic and nutritional management is recommended when needed and appropriate investigation is recommended in the event of signs suggestive of osteosarcoma.
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju, Prab R. Tumpati, MD