Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures (SEMDJL1)

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OMIM 57 271640 Orphanet 59 ORPHA93359 ICD10 via Orphanet 34 Q77.7 UMLS via Orphanet 74 C0432243

MedGen 42 C0432243 MeSH 44 D010009 SNOMED-CT via HPO 69 258211005 63567004 87979003 27272007 32958008 95427009 18265008 57190000 204164000 249704008 64859006 247427007 74969002 228156007 247578003 91138005 398151007 398152000 224958001 203598005 385522000 55033002 57048009 7890003 88565003 27911000 298203008 253549006 30288003 253366007 405752007 70142008 72352009 48724000 253273004 396351009 59494005 249808002 397932003 203534009 53226007 247488004 122480009 415692008 77599005 71286001 204739008 33995003 367495003 111266001 64217002 254062008 254080004 299236004 405773007 22640007 268029009 414564002 157265008 299330008 74370006 125617002 417558002 417109008 95854004 9634000 249710008 61960001 237836003 237837007 422065006 161832001 248342006 262285001 89362005 253930002 60389000 263057000 416189003 80400009 more

OMIM : ⁵⁷ Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1) is characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Nonaxial skeletal involvement includes elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed (summary by Smith et al., 1999). Patients with a similar phenotype and fractures have been described (Malfait et al., 2013). (271640)

MalaCards based summary : Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures, also known as semdjl1, is related to spondyloepimetaphyseal dysplasia joint laxity and spondyloepimetaphyseal dysplasia with joint laxity, type 2. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures is B3GALT6 (Beta-1,3-Galactosyltransferase 6). Affiliated tissues include bone, eye and heart, and related phenotypes are abnormality of epiphysis morphology and high palate

UniProtKB/Swiss-Prot : ⁷⁵ Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures: A bone disease characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise resulting in early death. Additional skeletal features include elbow deformities with radial head dislocation, dislocated hips, clubfeet, and tapered fingers with spatulate distal phalanges. Many affected children have an oval face, flat midface, prominent eyes with blue sclerae, and a long philtrum. Palatal abnormalities and congenital heart disease are also observed.

Clinical features from OMIM:

271640

Search Clinical Trials , NIH Clinical Center for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures.