Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 (SEMDJL2)

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Disease Ontology 12 DOID:0112199 OMIM® 57 603546 OMIM Phenotypic Series 57 PS271640 MeSH 44 D010009 MESH via Orphanet 45 C535784 ICD10 via Orphanet 33 Q77.7

UMLS via Orphanet 71 C1863732 Orphanet 58 ORPHA93360 MedGen 41 C1863732 SNOMED-CT via HPO 68 111266001 237836003 253098009 254062008 263681008 27911000 298203008 299330008 398151007 398152000 48334007 52781008 64217002 9634000 more UMLS 70 C1863732

UniProtKB/Swiss-Prot : ⁷² Spondyloepimetaphyseal dysplasia with joint laxity, 2: A bone disease characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly. The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2, also known as semdjl2, is related to spondyloepimetaphyseal dysplasia and spondyloepimetaphyseal dysplasia with joint laxity. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 is KIF22 (Kinesin Family Member 22). Affiliated tissues include eye and bone, and related phenotypes are scoliosis and short stature

Disease Ontology : ¹² A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has material basis in heterozygous mutation in KIF22 on chromosome 16p11.2.

OMIM® : ⁵⁷ Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640). (603546) (Updated 20-May-2021)

Clinical features from OMIM®:

603546 (Updated 20-May-2021)

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2.