Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Alternative Names

  • Humerospinal Dysostosis
  • HSD
  • Spondyloepiphyseal Dysplasia, Omani Type
  • Chondrodysplasia with Multiple Dislocations
  • CDMD
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

143095

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q22.1

Description

Spondyloepiphyseal dysplasia (SED) is a descriptive term for a group of disorders with primary involvement of the vertebra and epiphyseal centres, resulting in a short-trunk disproportionate dwarfism. The Omani Type of SED is an autosomal recessively transmitted disorder, characterized by a severely reduced adult height even though the height is normal at birth, severe progressive kyphoscoliosis, joint dislocations and arthritic changes, genu valgum, cubitus valgus, brachydactyly, camptodactyly, and microdontia. No impairment is noticed in the mental abilities. Joint movements are severely restricted due to the arthropathy and contractures.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
143095.1.1OmanFemaleYesYes Short stature ; ScoliosisNM_004273.5:c.911G>AHomozygousAutosomal, RecessiveThiele et al. 2004
143095.1.2OmanFemaleYesYes Short stature ; ScoliosisNM_004273.5:c.911G>AHomozygousAutosomal, RecessiveThiele et al. 2004 Sister of 143095.1.1
143095.1.3OmanFemaleYesYes Short stature ; ScoliosisNM_004273.5:c.911G>AHomozygousAutosomal, RecessiveThiele et al. 2004 Sister of 143095.1.1
143095.1.4OmanFemaleYesYes Short stature ; ScoliosisNM_004273.5:c.911G>AHomozygousAutosomal, RecessiveThiele et al. 2004 Sister of 143095.1.1
143095.2.01OmanMaleYesYes Short stature ; ScoliosisNM_004273.5:c.911G>AHomozygousAutosomal, RecessiveThiele et al. 2004
143095.2.02OmanFemaleYesYes Short stature ; ScoliosisNM_004273.5:c.911G>AHomozygousAutosomal, RecessiveThiele et al. 2004 Sister of 143095.2.0...
143095.2.03OmanFemaleYesYes Short stature ; ScoliosisNM_004273.5:c.911G>AHomozygousAutosomal, RecessiveThiele et al. 2004 Sister of 143095.2.0...
143095.2.04OmanFemaleYesYes Short stature ; ScoliosisNM_004273.5:c.911G>AHomozygousAutosomal, RecessiveThiele et al. 2004 Sister of 143095.2.0...
143095.3.01LebanonUnknown Spondyloepiphyseal dysplasia ; Joint ...NM_004273.5:c.141G>C, NM_004273.5:c.617_618invHeterozygousAutosomal, RecessiveUnger et al. 2010
143095.3.02LebanonUnknown Limitation of joint mobility ; Kyphosc...NM_004273.5:c.425G>T, NM_004273.5:c.661C>THeterozygousAutosomal, RecessiveUnger et al. 2010
143095.3.03LebanonUnknown Spondyloepiphyseal dysplasia ; Joint d...NM_004273.5:c.475T>AHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.04LebanonUnknown Genu recurvatum ; Talipes equinovarus ;...NM_004273.5:c.481C>THomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.05LebanonUnknown Genu valgum ; Lumbar hyperlordosis ; S...NM_004273.5:c.501C>A, NM_004273.5:c.675C>AHeterozygousAutosomal, RecessiveUnger et al. 2010
143095.3.06LebanonUnknown Abnormal femoral neck/head morphology ; ...NM_004273.4:c.533dupHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.07LebanonUnknown Spondyloepiphyseal dysplasia ; Joint d...NM_004273.4:c.533dupHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.08LebanonUnknown Spondyloepiphyseal dysplasia ; Joint ...NM_004273.5:c.603C>AHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.09LebanonUnknown Spondyloepiphyseal dysplasia ; Joint...NM_004273.5:c.620T>GHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.10LebanonUnknown Spondyloepiphyseal dysplasia ; Joint d...NM_004273.5:c.661C>THomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.11LebanonUnknown Knee dislocation ; Coronal cleft verteb...NM_004273.5:c.661C>THomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.12LebanonUnknown Spondyloepiphyseal dysplasia ; Joint di...NM_004273.5:c.664C>THomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.13LebanonUnknown Spondyloepiphyseal dysplasia ; Joint d...NM_004273.5:c.675C>A, NM_004273.5:c.1083_1090delinsCGGCAHeterozygousAutosomal, RecessiveUnger et al. 2010
143095.3.14LebanonUnknown Widened interpedicular distance ; Plat...NM_004273.4:c.718A>THomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.15LebanonUnknown Spondyloepiphyseal dysplasia ; Joint di...NM_004273.5:c.758G>AHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.16LebanonUnknown Spondyloepiphyseal dysplasia ; Joint d...NM_004273.5:c.776T>CHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.17LebanonUnknown Spondyloepiphyseal dysplasia ; Joint ...NM_004273.5:c.776T>CHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.18LebanonUnknown Spondyloepiphyseal dysplasia ; Joint...NM_004273.5:c.791G>AHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.19LebanonUnknown Spondyloepiphyseal dysplasia ; Joint di...NM_004273.5:c.920T>CHomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.20LebanonUnknown Spondyloepiphyseal dysplasia ; Joint d...NM_004273.5:c.928C>T, NM_004273.5:c.1148G>CHeterozygousAutosomal, RecessiveUnger et al. 2010
143095.3.21LebanonUnknown Spondyloepiphyseal dysplasia ; Joint ...NM_004273.5:c.928C>T, NM_004273.5:c.1148G>CHeterozygousAutosomal, RecessiveUnger et al. 2010
143095.3.22LebanonUnknown Spondyloepiphyseal dysplasia ; Joint ...NM_004273.5:c.988C>THomozygousAutosomal, RecessiveUnger et al. 2010
143095.3.23LebanonUnknown Spondyloepiphyseal dysplasia ; Joint ...NM_004273.5:c.1086delG, NM_004273.5:c.1114G>AHeterozygousAutosomal, RecessiveUnger et al. 2010
143095.3.24LebanonUnknown Spondyloepiphyseal dysplasia ; Joint ...NM_004273.5:c.1285C>THomozygousAutosomal, RecessiveUnger et al. 2010
143095.4Saudi ArabiaFemaleYes Short stature; Knee dislocation; Congeni...NM_004273.5:c.665G>THomozygousAutosomal, RecessiveMaddirevula et al. 2018
143095.5MoroccoNoYes Intrauterine growth retardation; Short s...NM_004273.5:c.1_1440delHomozygousAutosomal, RecessiveRanza et al. 2017
143095.6SyriaYes Growth delay; Joint dislocation; Talipes...NM_004273.5:c.776T>CHomozygousAutosomal, RecessiveNizon et al. 2012

Other Reports

Lebanon

Megarbane and Ghanem, 2004, identified a Lebanese boy with multiple dislocations, short stature, a frontal cowlick and prominent joints. The child was born to consanguineous parents. In 2007, Megarbane reported a second Lebanese patient born to consanguineous parents; a girl with severe short stature, bilateral dislocation of hips, knees and elbows, and right clubfoot. 

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