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Last update 01 Nov 2024

Rapadilino Syndrome

Last update 01 Nov 2024

Basic Info

Synonyms

RAPADILINO - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence, RAPADILINO - radial ray malformations, patella and palate abnormalities, diarrhoea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence, RAPADILINO SYNDROME

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Introduction

A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft 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.

100 Clinical Results associated with Rapadilino Syndrome

100 Translational Medicine associated with Rapadilino Syndrome

0 Patents (Medical) associated with Rapadilino Syndrome

Literatures (Medical) associated with Rapadilino Syndrome

01 Aug 2023·Fetal and pediatric pathology

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

Article

Author: Lituania, Mario ; Tonni, Gabriele ; Sepulveda, Waldo ; Grisolia, Gianpaolo ; Bonasoni, Maria Paola ; Ruano, Rodrigo ; Werner, Heron ; Araujo Júnior, Edward ; Rizzo, Giuseppe ; Koçak, Çağla

Background: VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. Methods: The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed. Results: The most common feature is a vertebral anomaly, found in 60-80% of cases. Tracheo-esophageal fistula is seen in 50-80% of cases and renal malformations in 30% of patients. Limb defects including thumb aplasia/hypoplasia, polydactyly, and radial agenesis/hypoplasia are present in 40-50% of cases. Anorectal defects, like imperforate anus/anal atresia, are challenging to detect prenatally. Conclusion: The diagnosis of VACTERL association mostly relies on imaging techniques such as ultrasound, computed tomography, and magnetic resonance. Differential diagnosis should exclude similar diseases such as CHARGE and Townes-Brocks syndromes and Fanconi anemia. New insights into genetic etiology have led to recommendations of chromosomal breakage investigation for optimal diagnosis and counseling.

01 Jun 2015·DNA RepairQ3 · MEDICINE

RECQ4 selectively recognizes Holliday junctions

Q3 · MEDICINE

Article

Author: Sedlackova, Hana ; Krejci, Lumir ; Cechova, Barbora ; Mlcouskova, Jarmila

The RECQ4 protein belongs to the RecQ helicase family, which plays crucial roles in genome maintenance. Mutations in the RECQ4 gene are associated with three insidious hereditary disorders: Rothmund-Thomson, Baller-Gerold, and RAPADILINO syndromes. These syndromes are characterized by growth deficiency, radial ray defects, red rashes, and higher predisposition to malignancy, especially osteosarcomas. Within the RecQ family, RECQ4 is the least characterized, and its role in DNA replication and repair remains unknown. We have identified several DNA binding sites within RECQ4. Two are located at the N-terminus and one is located within the conserved helicase domain. N-terminal domains probably cooperate with one another and promote the strong annealing activity of RECQ4. Surprisingly, the region spanning 322-400aa shows a very high affinity for branched DNA substrates, especially Holliday junctions. This study demonstrates biochemical activities of RECQ4 that could be involved in genome maintenance and suggest its possible role in processing replication and recombination intermediates.

01 Mar 2015·Clinical GeneticsQ2 · MEDICINE

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund–Thomson/Baller‐Gerold syndromes

Q2 · MEDICINE

Article

Author: Brady, A. F. ; Puzenat, E. ; Wright, M. ; Baujat, G. ; Piard, J. ; Martorell, L. ; Pasquier, L. ; Tajir, M. ; Collet, C. ; Goldenberg, A. ; Elalaoui, S. C. ; Gauthier, S. ; DiDonato, N. ; Blair, E. ; Faivre, L. ; Barlogis, V. ; Moldovan, O. ; Franques, J. ; Vabres, P. ; Thauvin‐Robinet, C. ; Callier, P. ; Philip, N. ; Capra, V. ; Gigot, N. ; Demeer, B. ; Courcet, J.‐B. ; González‐Enseñat, M. A. ; Thevenon, J. ; Boute, O. ; Geneviève, D. ; Pierquin, G. ; Baumann, C. ; Aral, B. ; Tardieu, M. ; Rivière, J.‐B. ; Parent, P. ; Toutain, A. ; Cordier, M.‐P. ; Holder‐Espinasse, M. ; Mégarbané, A. ; Bodemer, C. ; Sznajer, Y. ; Cormier‐Daire, V. ; Rio, M. ; Rodriguez, A. ; Francannet, C. ; Sousa, A. B. ; Boralevi, F. ; Coubes, C. ; Bessis, D.

Three overlapping conditions, namely Rothmund–Thomson (RTS), Baller‐Gerold (BGS) and RAPADILINO syndromes, have been attributed to

RECQL4

mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of

RECQL4

sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of

RECQL4

mutations in a series of 39 patients referred for

RECQL4

molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious

RECQL4

mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio‐type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No

RECQL4

mutations were found in the BGS group without poikiloderma, confirming that

RECQL4

sequencing was not indicated in this phenotype. One chromosomal abnormality and one

TWIST

mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of

RECQL4

sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next‐generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.

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Rapadilino Syndrome

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