Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 (SEMDJL2)

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OMIM 58 603546 MeSH 45 D010009 MESH via Orphanet 46 C535784 ICD10 via Orphanet 35 Q77.7 UMLS via Orphanet 75 C1863732

Orphanet 60 ORPHA93360 MedGen 43 C1863732 SNOMED-CT via HPO 70 111266001 237836003 253098009 254062008 263681008 27911000 298203008 299330008 398151007 398152000 48334007 52781008 64217002 9634000 more UMLS 74 C1863732

UniProtKB/Swiss-Prot : ⁷⁶ 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, matrilin-3 related and spondyloepimetaphyseal dysplasia joint laxity. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2 is KIF22 (Kinesin Family Member 22). Affiliated tissues include bone and skin, and related phenotypes are malar flattening and genu valgum

OMIM : ⁵⁸ 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)

Clinical features from OMIM:

603546

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