RAPADILINO syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = RAPADILINO syndrome | |||
| image = [[File:autorecessive.svg|200px]] | |||
| caption = RAPADILINO syndrome is inherited in an [[autosomal recessive]] manner | |||
| synonyms = RAPADILINO | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Radial ray defect]], [[patellar aplasia]], [[diarrhea]], [[limb malformations]], [[nasal]] anomalies | |||
| onset = [[Congenital]] | |||
| duration = Lifelong | |||
| causes = Mutations in the [[RECQL4]] gene | |||
| risks = | |||
| diagnosis = [[Genetic testing]], [[clinical evaluation]] | |||
| differential = [[Baller-Gerold syndrome]], [[Rothmund-Thomson syndrome]] | |||
| treatment = [[Symptomatic treatment]], [[orthopedic surgery]] | |||
| prognosis = Variable, depends on severity of symptoms | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
{{top}} | {{top}} | ||
=='''Alternate names'''== | =='''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 | 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== | ==RAPADILINO expanded== | ||
A rare syndrome for which the acronym indicates the principal signs: | A rare syndrome for which the acronym indicates the principal signs: | ||
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* ''LI'' for little size and [[limb malformations]], | * ''LI'' for little size and [[limb malformations]], | ||
* ''NO'' for long, slender [[nose]] and normal intelligence. | * ''NO'' for long, slender [[nose]] and normal intelligence. | ||
==Epidemiology== | ==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. | 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== | ==Clinical features== | ||
Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause. | 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. | 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== | ==Genetic counseling== | ||
RAPADILINO syndrome is transmitted in an autosomal recessive manner. | RAPADILINO syndrome is transmitted in an autosomal recessive manner. | ||
==''' Signs and symptoms''' == | ==''' Signs and symptoms''' == | ||
Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause. | Growth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause. | ||
== '''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. | 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== | ==Diagnosis== | ||
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a | 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== | ==Treatment== | ||
Orthopedic and nutritional management is recommended when needed and appropriate investigation is recommended in the event of signs suggestive of osteosarcoma. | Orthopedic and nutritional management is recommended when needed and appropriate investigation is recommended in the event of signs suggestive of osteosarcoma. | ||
{{Congenital malformations and deformations of musculoskeletal system}} | {{Congenital malformations and deformations of musculoskeletal system}} | ||
{{DNA repair-deficiency disorder}} | {{DNA repair-deficiency disorder}} | ||
{{DEFAULTSORT:Rapadilino Syndrome}} | {{DEFAULTSORT:Rapadilino Syndrome}} | ||
[[Category:Congenital disorders of musculoskeletal system]] | [[Category:Congenital disorders of musculoskeletal system]] | ||
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[[Category:DNA replication and repair-deficiency disorders]] | [[Category:DNA replication and repair-deficiency disorders]] | ||
[[Category:Syndromes affecting stature]] | [[Category:Syndromes affecting stature]] | ||
{{musculoskeletal-stub}} | {{musculoskeletal-stub}} | ||
Revision as of 18:13, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| RAPADILINO syndrome | |
|---|---|
| |
| Synonyms | RAPADILINO |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Radial ray defect, patellar aplasia, diarrhea, limb malformations, nasal anomalies |
| Complications | N/A |
| Onset | Congenital |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the RECQL4 gene |
| Risks | |
| Diagnosis | Genetic testing, clinical evaluation |
| Differential diagnosis | Baller-Gerold syndrome, Rothmund-Thomson syndrome |
| Prevention | N/A |
| Treatment | Symptomatic treatment, orthopedic surgery |
| Medication | N/A |
| Prognosis | Variable, depends on severity of symptoms |
| Frequency | Rare |
| Deaths | |
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.
| Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality | ||||||||||||||||||||
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| Metabolic disease: DNA replication and DNA repair-deficiency disorder | ||||
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