Recessive multiple epiphyseal dysplasia

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Recessive multiple epiphyseal dysplasia is a disorder of cartilage and bone development. This condition has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees.

Some affected individuals are born with an inward- and downward-turning foot (a clubfoot). An abnormality of the kneecap called a double-layered patella is also relatively common. Although some people with recessive multiple epiphyseal dysplasia have short stature as adults, most are of normal height.

[edit] Genetic prevalence

This condition is inherited in an autosomal recessive pattern, the incidence is unknown as many cases are not diagnosed due to mild symptoms.

Mutations in the SLC26A2 gene cause recessive multiple epiphyseal dysplasia. Recessive multiple epiphyseal dysplasia is the mildest condition in a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of recessive multiple epiphyseal dysplasia.

[edit] See also

• multiple epiphyseal dysplasia

[edit] External links

Online 'Mendelian Inheritance in Man' (OMIM) 226900

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 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 congenita) - Ellis-van Creveld syndrome - Otospondylomegaepiphyseal dysplasia - Spondyloepiphyseal dysplasia congenita collagen diseases: Osteogenesis imperfecta - Ehlers-Danlos syndrome 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 Other abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) See also non-congenital conditions (M, 710-739)