Rapadilino Syndrome (RAPADILINOS)

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OMIM 57 266280 Disease Ontology 12 DOID:0050774 Orphanet 59 ORPHA3021 MESH via Orphanet 45 C535288 UMLS via Orphanet 74 C1849453

ICD10 via Orphanet 34 Q87.1 MedGen 42 C1849453 KEGG 37 H00965 SNOMED-CT via HPO 69 258211005 63567004 87979003 27272007 699439001 103276001 15188001 343087000 95828007 108367008 87642003 267060006 62315008 237836003 more UMLS 73 C1849453

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3021Disease definitionRAPADILINO syndrome is a 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.EpidemiologyPrevalence 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 descriptionGrowth delay is both pre- and postnatal. It is aggravated by feeding problems and diarrhea of no known cause.EtiologyRAPADILINO 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.Differential diagnosisDifferential diagnoses include Rothmund-Thomson syndrome (RTS) and Baller-Gerold syndrome (see these terms), which show considerable overlap with RAPADILINO syndrome. Mutations of the RECQL4 gene have also been described for these syndromes.The presence of poikiloderma, a major symptom of RTS, distinguishes this syndrome from RAPADILINO. Radial hypoplasia or aplasia, which is constant in RAPADILINO syndrome, is occasional in RTS. Equally, the presence of craniosynostosis in Baller-Gerold syndrome differentiates it from RAPADILINO syndrome. The three syndromes predispose the risk of developing malign pathologies, although this is significantly greater for RTS (mainly osteosarcoma and cutaneous cancers). The clinical differences can be explained by phenotype-genotype correlation, in particular by preservation of helicases in RAPADLINO syndrome.Genetic counselingRAPADILINO syndrome is transmitted in an autosomal recessive manner.Management and treatmentOrthopedic and nutritional management is recommended when needed and appropriate investigation is recommended in the event of signs suggestive of osteosarcoma.Visit the Orphanet disease page for more resources.

MalaCards based summary : Rapadilino Syndrome, also known as absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate, is related to baller-gerold syndrome and rothmund-thomson syndrome. An important gene associated with Rapadilino Syndrome is RECQL4 (RecQ Like Helicase 4), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include bone, and related phenotypes are joint dislocation and high palate

Genetics Home Reference : ²⁵ RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.

UniProtKB/Swiss-Prot : ⁷⁵ RAPADILINO syndrome: Disease characterized by radial and patellar aplasia or hypoplasia.

Wikipedia : ⁷⁶ RAPADILINO syndrome is an autosomal recessive disorder characterized... more...

Description from OMIM: 266280

Clinical features from OMIM:

266280

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	8.92	RECQL RECQL4 RECQL5 WRN

Search Clinical Trials , NIH Clinical Center for Rapadilino Syndrome

Search GEO for disease gene expression data for Rapadilino Syndrome.