WikiMD is world's largest health encyclopedia with
28,557 pages, 3,991,056 edits & 34,290,934 views.
RAPADILINO syndrome
Editor-In-Chief: Prab R. Tumpati M.D.. Founder, WikiMD and W8MD Weight Loss, Sleep and MedSpa Centers. Dr. Tumpati is board certified physician practicing sleep medicine, obesity medicine, aesthetic medicine and internal medicine. Dr. Tumpati’s passion is prevention rather than cure. As a physician with fellowship training in Obesity Medicine, Dr. Tumpati has a unique approach to wellness, weight loss, aesthetics with a focus on prevention rather than cure. Dr. Tumpati believes in educating the public on the true science and art of medicine, nutrition, wellness and beauty.
Alternate names
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
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
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
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
RAPADILINO syndrome is transmitted in an autosomal recessive manner.
Signs and symptoms
Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause.
Cause
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
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
Orthopedic and nutritional management is recommended when needed and appropriate investigation is recommended in the event of signs suggestive of osteosarcoma.
![]() | This human musculoskeletal system article is a stub. You can help WikiMD by expanding it. |
RAPADILINO syndrome is part of WikiMD's Physician reviewed^ articles available 4free, 4all, 4ever! |
---|
Medicine: Health - Encyclopedia - Topics - Diseases - Cancer - Rare diseases - Random Page Navigation: Drugs - Wellness - Obesity - Diet - Ketogenic diet - W8MD weight loss diet - Editors: Recently Edited Pages - Alphabetical Order - Sponsors - USMLE The content on or accessible through WikiMD is for informational purposes only. WikiMD is not a substitute for professional medical advice. ^See full Disclaimers |
Ad. Tired of being overweight?. W8MD's insurance Weight loss program can HELP* |