Spondyloepimetaphyseal dysplasia with joint laxity, type 2

Preferred Label : Spondyloepimetaphyseal dysplasia with joint laxity, type 2;

Symbol : SEMDJL2;

CISMeF acronym : SEMDJL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; Spondyloepimetaphyseal dysplasia with joint laxity, hall type; Spondyloepimetaphyseal dysplasia with multiple dislocations, hall type;

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 (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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the kinesin family member 22 gene (KIF22, 603213.0001);

Prefixed ID : #603546;

Details

Origin ID

603546;

UMLS CUI

C1863732;

Currated CISMeF NLP mapping
- Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 [NCIt concept]
- Spondyloepimetaphyseal dysplasia with multiple dislocations [ORDO Disease]
- Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) [SNOMED CT concept]
- spondyloepimetaphyseal dysplasia with multiple dislocations [MeSH Supplementary Concept]
Genes related to phenotype
- Kinesin family member 22 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Broad distal phalanx of finger [HPO term]
- Broad, square ends of distal phalanges [HPO term]
- Carpal bone hypoplasia [HPO term]
- Caudal interpedicular narrowing [HPO term]
- Congenital hip dislocation [HPO term]
- Delayed patellar ossification [HPO term]
- Delayed phalangeal epiphyseal ossification [HPO term]
- Dislocated radial head [HPO term]
- Flared metaphysis [HPO term]
- Flat capital femoral epiphysis [HPO term]
- Flattened epiphysis [HPO term]
- Generalized hypotonia [HPO term]
- Genu valgum [HPO term]
- Hypoplasia of the capital femoral epiphysis [HPO term]
- Hypotonia [HPO term]
- Irregular epiphyses [HPO term]
- Irregular vertebral endplates [HPO term]
- Joint laxity [HPO term]
- Large joint dislocations [HPO term]
- Long distal phalanx of finger [HPO term]
- Long proximal phalanx of finger [HPO term]
- Malar flattening [HPO term]
- Metaphyseal irregularity [HPO term]
- Midface retrusion [HPO term]
- Narrow femoral neck [HPO term]
- Posterior scalloping of vertebral bodies [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Slender distal phalanx of finger [HPO term]
- Slender proximal phalanx of finger [HPO term]
- Small epiphyses [HPO term]
- Small flat capital femoral epiphyses [HPO term]
- Soft skin [HPO term]
- Spinal dysraphism [HPO term]
- Spondyloepimetaphyseal dysplasia [HPO term]
- Streaky metaphyseal sclerosis [HPO term]
- small, flattened irregular epiphyses [HPO term]
Not associated HPO term(s)
- Poor wound healing [HPO term]
ORDO concept(s)
- Spondyloepimetaphyseal dysplasia with multiple dislocations [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2 [NCIt concept]
- Spondyloepimetaphyseal dysplasia - multiple dislocations [ICD-11 More detail]
- Spondyloepimetaphyseal dysplasia with multiple dislocations [ORDO Disease]
- Spondyloepimetaphyseal dysplasia with multiple dislocations [MeSH concept]
- Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder) [SNOMED CT concept]
- spondyloepimetaphyseal dysplasia with multiple dislocations [MeSH Supplementary Concept]

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