Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

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OMIM 57 603546 Orphanet 59 ORPHA93360 MESH via Orphanet 45 C535784 UMLS via Orphanet 74 C1863732 ICD10 via Orphanet 34 Q77.7

MedGen 42 C1863732 MeSH 44 D010009 SNOMED-CT via HPO 69 263681008 398151007 398152000 48334007 52781008 27911000 298203008 111266001 64217002 254062008 299330008 9634000 237836003 253098009 more UMLS 73 C1863732

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). 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 (summary by Boyden et al., 2011). (603546)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2, also known as semdjl2, is related to spondyloepimetaphyseal dysplasia with multiple dislocations and spondyloepimetaphyseal dysplasia, matrilin-3 related. 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

UniProtKB/Swiss-Prot : ⁷⁵ 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.

Clinical features from OMIM:

603546

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