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rapadilino syndrome
ICD-10 Codes
Related ICD-10:
Description
RAPADILINO syndrome is a rare condition that affects multiple parts of the body, particularly bone development. The characteristic features of this syndrome include:
- Underdeveloped or absent bones in the forearms and thumbs [2]
- Kneecaps may be underdeveloped or absent [2]
- Cleft or high-arched palate [2]
- Long, narrow nose [3]
- Dislocated joints [2]
These physical characteristics are often present at birth and can vary in severity among affected individuals. The syndrome is also associated with a range of other symptoms, including:
- Radial ray defect (RA)
- Patellae hypoplasia/aplasia and cleft or highly arched palate (PA)
- Diarrhea and dislocated joints (DI)
- Little size and limb malformations (LI)
- Long, slender nose (NO)
RAPADILINO syndrome is a rare autosomal recessive disorder, meaning that it is inherited in an autosomal recessive pattern. This means that affected individuals typically inherit two copies of the mutated gene, one from each parent [9].
It's worth noting that RAPADILINO syndrome has been associated with a high incidence of cancer, particularly osteosarcoma and lymphoma, with a reported 40% cancer incidence in Finnish patients [6].
Additional Characteristics
- Dislocated joints
- Underdeveloped or absent bones in the forearms and thumbs
- Kneecaps may be underdeveloped or absent
- Cleft or high-arched palate
- Long, narrow nose
- Radial ray defect (RA)
- aplasia and cleft or highly arched palate (PA)
- Diarrhea and dislocated joints (DI)
- Little size and limb malformations (LI)
- Long, slender nose (NO)
Signs and Symptoms
RAPADILINO syndrome is characterized by several distinctive signs and symptoms, which can vary in severity from one individual to another.
- Radial ray defects: Most people with RAPADILINO syndrome have underdeveloped or absent bones in the forearms [6].
- Absent thumbs: A significant number of individuals with this condition are born without thumbs or have severely underdeveloped thumbs [5].
- Skeletal abnormalities: The syndrome is also associated with various skeletal abnormalities, including dislocated joints and limb malformations [4][7].
- Patellae hypoplasia/aplasia: Many people with RAPADILINO syndrome have underdeveloped or absent kneecaps [6][9].
- Cleft palate: A cleft palate is a common feature of this condition, which can affect speech and eating abilities [5][7].
- Diarrhea and joint dislocation: Some individuals with RAPADILINO syndrome experience diarrhea and joint dislocations, particularly in infancy [1][4][7].
- Short stature: People with this condition often have short stature due to impaired bone development [1][8].
It's essential to note that the severity and combination of these symptoms can vary significantly from one individual to another. If you're looking for more information on RAPADILINO syndrome, I'd be happy to help!
Additional Symptoms
- Cleft palate
- Skeletal abnormalities
- Radial ray defects
- Absent thumbs
- aplasia
- Diarrhea and joint dislocation
- short stature
Diagnostic Tests
Rapadilino syndrome can be diagnosed through various clinical tests, which are essential for identifying this rare condition.
- Clinical Genetic Test: A genetic test offered by Laboratorio de Genetica Clinica SL is available for diagnosing Rapadilino syndrome. This test involves analyzing the RECQL4 gene (located on chromosome 8q24.3) [1][4].
- Molecular Genetics Tests: Molecular genetics tests, such as sequence analysis of the entire coding region and bi-directional Sanger sequence analysis, can also be used to diagnose Rapadilino syndrome [9].
- Blood Test: A blood test is required for this condition, which involves collecting two 4ml EDTA tubes or using extracted DNA (3ug in EB buffer), buccal swab, or saliva (kits available upon request) [2].
These diagnostic tests are crucial for identifying Rapadilino syndrome and can help healthcare professionals provide an accurate diagnosis.
References: [1] - Context result 4 [2] - Context result 2 [9] - Context result 9
Additional Diagnostic Tests
- Blood Test
- Molecular Genetics Tests
- Clinical Genetic Test
Treatment
Based on the provided context, it appears that there are some medications being used to treat Rapadilino Syndrome.
- Levetiracetam (an antiepileptic drug) is mentioned in search result 6 as a medication used to treat this disease.
- Topiramate (an anticonvulsant) is also listed in search result 6 as a treatment option for Rapadilino Syndrome.
- Amitriptyline (an antidepressant) is another medication mentioned in search result 6 that may be used to treat this condition.
It's worth noting that the context also mentions that clinical studies and medical advances are important for rare diseases like Rapadilino Syndrome, but it does not provide specific information on drug treatment. Consultation with a healthcare professional is recommended for medical advice and treatment.
References: * [6] Levetiracetam (antiepileptic drug) · Topiramate (anticonvulsant) · Amitriptyline (antidepressant) * [4] Please consult with a healthcare professional for medical advice and treatment.
Recommended Medications
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Rapadilino syndrome, also known as radial aplasia and patellar aplasia/hypoplasia, has a differential diagnosis that includes other rare genetic disorders.
- Baller-Gerold syndrome: This is one of the primary differential diagnoses for rapadilino syndrome. It is characterized by radial ray defects, facial abnormalities, and sometimes, patellar aplasia or hypoplasia [1][3].
- Rothmund-Thomson syndrome (RTS): RTS is another condition that can be confused with rapadilino syndrome due to overlapping symptoms such as skin changes, short stature, and limb malformations. However, RTS typically presents with more pronounced skin manifestations [9].
- Genitopatellar syndrome: This rare genetic disorder shares some similarities with rapadilino syndrome, including patellar aplasia or hypoplasia, but it is characterized by additional features such as genitourinary anomalies and intellectual disability [6].
It's essential to note that the differential diagnosis for rapadilino syndrome can be complex due to its overlapping symptoms with other rare genetic disorders. A comprehensive evaluation of clinical features, family history, and genetic testing may be necessary to accurately diagnose this condition.
References: [1] Context 3 [3] Context 5 [6] Context 6 [9] Context 9
Additional Differential Diagnoses
Additional Information
- relatedICD
- http://example.org/icd10/G47.59
- rdf-schema#label
- rapadilino syndrome
- rdf-schema#subClassOf
- t331945
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- oboInOwl#creation_date
- 2013-02-21T11:56:15Z
- oboInOwl#id
- DOID:0050774
- oboInOwl#hasDbXref
- UMLS_CUI:C1849453
- IAO_0000115
- A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24.
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- RO_0002452
- http://purl.obolibrary.org/obo/SYMP_0000570
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_810
- owl#annotatedSource
- t332621
- core#notation
- DOID:0050774
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.