RAPADILINO syndrome

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.



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Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(64.3%)		 1481838
 RAPADILINO syndrome.
Vargas FR, de Almeida JC, Llerena Junior JC, Reis DF.
Am J Med Genet. 1992;44(6):716-9.
Slender nose Absent thumb
Atrial Septal Defects Child Dwarfism Face Homo sapiens Limb Deformities, Congenital Male Patella Syndrome
2
(45.9%)		 2801769
 RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.
Kaariainen H, Ryoppy S, Norio R.
Am J Med Genet. 1989;33(3):346-51.
Diarrhea Patellar aplasia
Bone Diseases, Developmental Child Child, Preschool Differential Diagnosis Facial Expression Females Growth Disorders Homo sapiens Infantile Diarrhea Male Patella Syndrome
3
(39.0%)		 11891687
 Absence of thumbs, A/hypoplasia of radius, hypoplasia of ulnae, retarded bone age, short stature, microcephaly, hypoplastic genitalia, and mental retardation.
Wieczorek D, Koster B, Gillessen-Kaesbach G.
Am J Med Genet. 2002;108(3):209-13.
Microcephaly
rs121434606
Bone and Bones Child, Preschool Cytogenetic Analysis Growth Disorders Homo sapiens Intellectual Disability Male Male Genital Organs
4
(4.0%)		 15964893
 Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestila M, Gillerot Y, Megarbane A, Verloes A.
J Med Genet. 2006;43(2):148-52.
Poikiloderma
c|SUB|A|IVS17-2|C g|DEL|2886|T p|SUB|R|1021|W;RS#:137853232 rs1060501383 rs137853229 rs137853232 rs786200889
Adenosine Triphosphatases Child Child, Preschool Craniosynostosis DNA Helicases DNA Mutational Analysis Females Homo sapiens Infant Infant, Newborn Male Mutation Pregnancy RecQ Helicases Syndrome
4
(4.0%)		 9571286
 Rapadilino syndrome--a non-Finnish case.
Kant SG, Baraitser M, Milla PJ, Winter RM.
Clin Dysmorphol. 1998;7(2):135-8.
Skin rash
Diarrhea Food Allergy Growth Disorders Homo sapiens Infant Intelligence Limb Deformities, Congenital Male Nose Palate Patella Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 0

HPO ID Term Frequency


Phenotype(s) retrieved from case reports

    Total: 5

HPO ID Term # of case reports
HP:0000417 Slender nose 1
HP:0002014 Diarrhea 1
HP:0004322 Short stature 1
HP:0006443 Patellar aplasia 1
HP:0009777 Absent thumb 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
RECQL4 RecQ like helicase 4 9401