Larsen syndrome

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Larsen syndrome Classification and external resources
OMIM	150250 245600
DiseasesDB	32807

Larsen Syndrome (LS) is a rare autosomal dominant genetic disease that occurs in about every 1 in 100,000 people. Its symptoms include hypermobility, congenital dislocations, brachycephaly and cleft palate.

The full descriptor of LS is Autosomal Dominant Larsen Syndrome. The condition was first described in a 1952 article by L. J. Larsen, et al.

[edit] Symptoms

A more complete list of symptoms includes:

• Multiple joint dislocations
• Foot deformities
• Non-tapering, cylindrical shaped fingers
• Unusual facial appearance
• Less commonly occurring:
  • Short stature
  • Additional skeletal abnormalities
  • Cleft palate
  • Heart defects
  • Hearing impairment
  • Mental retardation

A similar syndrome, known as Desbuquois syndrome, has been mapped to a different gene locus.

[edit] See also

• FLNB

[edit] External links

• Cedars-Sinai Entry
• WebMD Abstract

v • d • e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q79, 754-756) Congenital limb deformities Upper limbs Cleidocranial dysostosis - Madelung's deformity - Sprengel's deformity - Wallis Zieff Goldblatt syndrome Lower limbs hip: Dislocation of hip/Hip dysplasia - Upington disease knee: Genu valgum - Genu varum feet: Club foot - Flat feet - Pes cavus Upper and/or lower limbs dactyly: Polydactyly/Syndactyly (Webbed toes) - Arachnodactyly - Cenani Lenz syndactylism reduction deficits: Acheiropodia - Amelia - Ectrodactyly - Phocomelia multiple joints: Arthrogryposis - Larsen syndrome - Rapadilino syndrome Craniofacial abnormalities Macrocephaly - Platybasia Craniosynostosis: Scaphocephaly - Oxycephaly - Trigonocephaly Craniofacial dysostosis: Crouzon syndrome - Hypertelorism - Hallermann-Streiff syndrome - Treacher Collins syndrome Craniodiaphyseal dysplasia Dolichocephaly - Greig cephalopolysyndactyly syndrome - Plagiocephaly Other axial skeleton spine: spinal curvature (Scoliosis) - Klippel-Feil syndrome - Spondylolisthesis ribs: Cervical rib - Bifid rib sternum: Pectus excavatum - Pectus carinatum Osteochondrodysplasia development of cartilage, tubular bones and spine: Achondrogenesis/Hypochondrogenesis - Boomerang dysplasia - Thanatophoric dysplasia - Short rib-polydactyly syndrome - Chondrodysplasia punctata (Rhizomelic chondrodysplasia punctata, Conradi-Hünermann syndrome) - Achondroplasia (Hypochondroplasia) - Osteosclerosis (Raine syndrome) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita collagen diseases: Osteogenesis imperfecta - Ehlers-Danlos syndrome combined/other: McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Recessive multiple epiphyseal dysplasia - Hereditary multiple exostoses - Osteopoikilosis - Chondrodystrophy - Osteodystrophy - Atelosteogenesis, type II - Diastrophic dysplasia - Camurati-Engelmann disease - Antley-Bixler syndrome Other abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) See also non-congenital conditions (M, 710-739)