Rapadilino syndrome

Rapadilino syndrome
Classification and external resources
Specialty	medical genetics
ICD-10	Q87.1
OMIM	266280
DiseasesDB	34465

Rapadilino syndrome is an autosomal recessive^[1] congenital disorder characterized by radial and patellar aplasia, short stature, arched or cleft palate, limb malformation, and dislocated joints.^[1] It is more prevalent in Finland than elsewhere in the world.

It has been associated with RECQL4.^[2] This is also associated with Rothmund-Thomson syndrome^[3] and Baller-Gerold syndrome.^[4]

Rapadilino syndrome has an autosomal recessive pattern of inheritance.

External links

1 2 Kaariainen H, Ryoppy S, Norio R (1989). "Rapadlino syndrome with radial and patellar aplasia/hypoplasia as main manifestations". Am J Med Genet. 33 (3): 346–351. doi:10.1002/ajmg.1320330312. PMID 2801769.
↑ Siitonen HA, Kopra O, Kääriäinen H, et al. (November 2003). "Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases". Hum. Mol. Genet. 12 (21): 2837–44. doi:10.1093/hmg/ddg306. PMID 12952869.
↑ Yin J, Kwon YT, Varshavsky A, Wang W (October 2004). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway". Hum. Mol. Genet. 13 (20): 2421–30. doi:10.1093/hmg/ddh269. PMID 15317757.
↑ Online Mendelian Inheritance in Man (OMIM) 218600

clavicle / shoulder:	Cleidocranial dysostosis Sprengel's deformity Wallis–Zieff–Goldblatt syndrome

hand deformity:	Madelung's deformity Clinodactyly Oligodactyly Polydactyly

hip:	Dislocation of hip / Hip dysplasia Upington disease Coxa valga Coxa vara

knee:	Genu valgum Genu varum Genu recurvatum Discoid meniscus Congenital patellar dislocation Congenital knee dislocation

foot deformity:	varus Club foot Pigeon toe valgus Flat feet Pes cavus Rocker bottom foot Hammer toe

Either / both

fingers and toes	Polydactyly / Syndactyly webbed toes Arachnodactyly Cenani–Lenz syndactylism Ectrodactyly Brachydactyly Clubbed thumb

reduction deficits / limb:	Acheiropodia ectromelia Phocomelia Amelia Hemimelia

multiple joints:	Arthrogryposis Larsen syndrome Rapadilino syndrome

Craniosynostosis:	Scaphocephaly Oxycephaly Trigonocephaly

Craniofacial dysostosis:	Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome

other:	Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle nose

ribs:	Cervical Bifid

sternum:	Pectus excavatum Pectus carinatum

Nucleotide excision repair	Cockayne syndrome/DeSanctis–Cacchione syndrome Thymine dimer Xeroderma pigmentosum IBIDS syndrome

MSI/DNA mismatch repair	Hereditary nonpolyposis colorectal cancer Muir–Torre syndrome Mismatch repair cancer syndrome

MRN complex	Ataxia telangiectasia Nijmegen breakage syndrome

Other	RecQ helicase Bloom syndrome Werner syndrome Rothmund–Thomson syndrome/Rapadilino syndrome Fanconi anemia Li-Fraumeni syndrome Severe combined immunodeficiency

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