Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 2

Alternative Names

  • SEMDJL2
  • Spondyloepimetaphyseal Dysplasia with Joint Laxity, Hall Type
  • Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type
  • Spondyloepimetaphyseal Dysplasia with Multiple Dislocations, Hall Type
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

603546

Mode of Inheritance

Autosomal dominant

Gene Map Locus

16p11.2

Description

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. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
603546.1LebanonUnknown Short stature; Skeletal dysplasia; Joint...NM_001256269.1:c.242G>AHeterozygousAutosomal, DominantBoyden et al. 2011 de novo mutation
603546.2AlgeriaNoYes Short stature; Delayed skeletal maturati...NM_007317.3:c.443C>THeterozygousAutosomal, DominantRanza et al. 2017 de novo mutation

Other Reports

Iraq

Shohat et al. (1993) reported a distinct type of spondyloepimetaphyseal dysplasia seen in two sibs and their second cousin, characterized by early onset severe short stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity. Radiography demonstrated that the patients had platyspondyly, initially noted during the first years of life, with central hypoplasia of the vertebral bodies. At a later age, the vertebra appear squared with mild interpedicular narrowing. The long bone changes, which at early age resemble those seen in achondroplasia, later include general metaphyseal irregularities and significant epiphyseal ossification delay. Shohat et al. (1993) suggested that their patients represent a previously undescribed form of spondyloepimetaphyseal dysplasia, most probably transmitted as an autosomal recessive tract.

Lebanon

Megarbane et al. (2003) reported the case of a 6-year old boy, born to non-consanguineous healthy parents, who was presented to the clinic for short stature. All his siblings were normal. He had earlier suffered from hip dislocation at the age of 3-months, and his developmental milestones had been delayed. Radiological results showed severe delay in ossification of the epiphyses and the carpal bones, thoracic scoliosis, right hip dislocation, small and irregular epiphyses, slender femoral neck with flattened epiphyses, narrow interpendicular distances in the lower limb, and slender metacarpals, with no epiphyseal or carpal ossification.

© CAGS 2022. All rights reserved.