Rapadilino syndrome

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Rapadilino syndrome
Classification and external resources
Specialty	Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value).
ICD-10	Q87.1
OMIM	266280
DiseasesDB	34465
Patient UK	Rapadilino syndrome
[[[d:Lua error in Module:Wikidata at line 863: attempt to index field 'wikibase' (a nil value).\|edit on Wikidata]]]

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

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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